2023
Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children
Lee D, Le Pen J, Yatim A, Dong B, Aquino Y, Ogishi M, Pescarmona R, Talouarn E, Rinchai D, Zhang P, Perret M, Liu Z, Jordan I, Bozdemir S, Bayhan G, Beaufils C, Bizien L, Bisiaux A, Lei W, Hasan M, Chen J, Gaughan C, Asthana A, Libri V, Luna J, Jaffré F, Hoffmann H, Michailidis E, Moreews M, Seeleuthner Y, Bilguvar K, Mane S, Flores C, Zhang Y, Arias A, Bailey R, Schlüter A, Milisavljevic B, Bigio B, Le Voyer T, Materna M, Gervais A, Moncada-Velez M, Pala F, Lazarov T, Levy R, Neehus A, Rosain J, Peel J, Chan Y, Morin M, Pino-Ramirez R, Belkaya S, Lorenzo L, Anton J, Delafontaine S, Toubiana J, Bajolle F, Fumadó V, DeDiego M, Fidouh N, Rozenberg F, Pérez-Tur J, Chen S, Evans T, Geissmann F, Lebon P, Weiss S, Bonnet D, Duval X, Pan-Hammarström Q, Planas A, Meyts I, Haerynck F, Pujol A, Sancho-Shimizu V, Dalgard C, Bustamante J, Puel A, Boisson-Dupuis S, Boisson B, Maniatis T, Zhang Q, Bastard P, Notarangelo L, Béziat V, de Diego R, Rodriguez-Gallego C, Su H, Lifton R, Jouanguy E, Cobat A, Alsina L, Keles S, Haddad E, Abel L, Belot A, Quintana-Murci L, Rice C, Silverman R, Zhang S, Casanova J, Alavoine L, Behillil S, Burdet C, Charpentier C, Dechanet A, Descamps D, Duval X, Ecobichon J, Enouf V, Frezouls W, Houhou N, Kafif O, Lehacaut J, Letrou S, Lina B, Lucet J, Manchon P, Nouroudine M, Piquard V, Quintin C, Thy M, Tubiana S, van der Werf S, Vignali V, Visseaux B, Yazdanpanah Y, Chahine A, Waucquier N, Migaud M, Deplanque D, Djossou F, Mergeay-Fabre M, Lucarelli A, Demar M, Bruneau L, Gérardin P, Maillot A, Payet C, Laviolle B, Laine F, Paris C, Desille-Dugast M, Fouchard J, Malvy D, Nguyen D, Pistone T, Perreau P, Gissot V, Le Goas C, Montagne S, Richard L, Chirouze C, Bouiller K, Desmarets M, Meunier A, Lefèvre B, Jeulin H, Legrand K, Lomazzi S, Tardy B, Gagneux-Brunon A, Bertholon F, Botelho-Nevers E, Christelle K, Nicolas L, Roufai L, Amat K, Couffin-Cadiergues S, Espérou H, Hendou S, Abel L, Abolhassani H, Aguilera-Albesa S, Aiuti A, Akcan O, Akcay N, Alkan G, Alkhater S, Allende L, Alper Y, Amenzoui N, Anderson M, Arkin L, Aubart M, Avramenko I, Aydemir Ş, Aydin Z, Aytekin C, Aytekin G, Aytekin S, Bando S, Beland K, Belkaya S, Biggs C, Aburto A, Blanchard-Rohner G, Blázquez-Gamero D, Bloomfield M, Bogunovic D, Bondarenko A, Borghesi A, Bousfiha A, Boyarchuk O, Brodin P, Bryceson Y, Bucciol G, Calcaterra V, Casari G, Cavalcanti A, Celik J, Chrousos G, Colobran R, Condino-Neto A, Conti F, Cooper M, Coskuner T, Cyrus C, D’Auria E, Delafontaine S, Drolet B, Duramaz B, Zein L, Elnagdy M, Emiroglu M, Erdeniz E, Fabi M, Feldman H, Fellay J, Fencl F, Filippatos F, Freiss J, Fremuth J, Gagro A, Garcia-Solis B, Vergine G, González-Montelongo R, Gul Y, Gülhan B, Gultekin S, Gut M, Halwani R, Hammarström L, Hatipoğlu N, Heath J, Henrickson S, Hernandez-Brito E, Hoffman I, Hoste L, Hsieh E, Íñigo-Campos A, Itan Y, Jabandziev P, Kandemir B, Kanık-Yüksek S, Kapakli H, Karbuz A, Kasapcopur O, Kechiche R, Demirkol Y, Kilic O, Hansen S, Klocperk A, Lau Y, Lebl J, Lorenzo-Salazar J, Lucas C, Maglorius M, Marque L, Medina Y, Melián A, Mentis A, Pato M, Michos A, Milner J, Mogensen T, Muñoz-Barrera A, Nepesov S, Neves J, Ng A, Ng L, Novelli A, Novelli G, Oz F, Ocejo-Viñals J, Okada S, Orbak Z, Kilic A, Ouair H, Öz Ş, Özçelik T, Özkan E, Parlakay A, Pato C, Paz-Artal E, Pelham S, Pellier I, Philippot Q, Planas-Serra L, Plassart S, Pokorna P, Polat M, Poli C, Prando C, Renia L, Rivière J, Rodríguez-Palmero A, Roussel L, Rubio-Rodriguez L, Salifu M, Sasek L, Sasia L, Scherbina A, Schmitt E, Sediva A, Sevketoglu E, Slaba K, Slaby O, Sobh A, Solé-Violán J, Soler-Palacin P, De Somer L, Sözeri B, Spaan A, Stepanovskiy Y, Tangye S, Tanir G, Tatsi E, Thorball C, Torun S, Turvey S, Uddin M, Uyar E, Valencia-Ramos J, Van Den Rym A, Vatansev H, de Vera M, Vermeulen F, Vinh D, Volokha A, von Bernuth H, Wouters C, Yahşi A, Yarar V, Yesilbas O, Yıldız M, Zatz M, Zawadzki P, Zuccotti G, Zhang S, Casanova J. Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children. Science 2023, 379: eabo3627. PMID: 36538032, PMCID: PMC10451000, DOI: 10.1126/science.abo3627.Peer-Reviewed Original ResearchConceptsOAS-RNase LInflammatory syndromeCytokine productionInflammatory cytokinesSARS-CoV-2-related multisystem inflammatory syndromeCytosolic double-stranded RNAMultisystem inflammatory syndromeRig-I deficiencySuppress cytokine productionPrimary myeloid cellsRNase LMonocytic cell lineAutosomal recessive deficiencyMyeloid cellsMononuclear phagocytesUnrelated childrenInborn errorsRecessive deficiencyDeficient cellsProtein deficiencyCOVID-19Cell linesCytokinesSyndromeDouble-stranded RNA
2020
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
Zhang Q, Bastard P, Liu Z, Le Pen J, Moncada-Velez M, Chen J, Ogishi M, Sabli IKD, Hodeib S, Korol C, Rosain J, Bilguvar K, Ye J, Bolze A, Bigio B, Yang R, Arias AA, Zhou Q, Zhang Y, Onodi F, Korniotis S, Karpf L, Philippot Q, Chbihi M, Bonnet-Madin L, Dorgham K, Smith N, Schneider WM, Razooky BS, Hoffmann HH, Michailidis E, Moens L, Han JE, Lorenzo L, Bizien L, Meade P, Neehus AL, Ugurbil AC, Corneau A, Kerner G, Zhang P, Rapaport F, Seeleuthner Y, Manry J, Masson C, Schmitt Y, Schlüter A, Le Voyer T, Khan T, Li J, Fellay J, Roussel L, Shahrooei M, Alosaimi MF, Mansouri D, Al-Saud H, Al-Mulla F, Almourfi F, Al-Muhsen SZ, Alsohime F, Al Turki S, Hasanato R, van de Beek D, Biondi A, Bettini LR, D’Angio’ M, Bonfanti P, Imberti L, Sottini A, Paghera S, Quiros-Roldan E, Rossi C, Oler AJ, Tompkins MF, Alba C, Vandernoot I, Goffard JC, Smits G, Migeotte I, Haerynck F, Soler-Palacin P, Martin-Nalda A, Colobran R, Morange PE, Keles S, Çölkesen F, Ozcelik T, Yasar KK, Senoglu S, Karabela ŞN, Rodríguez-Gallego C, Novelli G, Hraiech S, Tandjaoui-Lambiotte Y, Duval X, Laouénan C, Snow A, Dalgard C, Milner J, Vinh D, Mogensen T, Marr N, Spaan A, Boisson B, Boisson-Dupuis S, Bustamante J, Puel A, Ciancanelli M, Meyts I, Maniatis T, Soumelis V, Amara A, Nussenzweig M, García-Sastre A, Krammer F, Pujol A, Duffy D, Lifton R, Zhang S, Gorochov G, Béziat V, Jouanguy E, Sancho-Shimizu V, Rice C, Abel L, Notarangelo L, Cobat A, Su H, Casanova J, Foti G, Bellani G, Citerio G, Contro E, Pesci A, Valsecchi M, Cazzaniga M, Abad J, Aguilera-Albesa S, Akcan O, Darazam I, Aldave J, Ramos M, Nadji S, Alkan G, Allardet-Servent J, Allende L, Alsina L, Alyanakian M, Amador-Borrero B, Amoura Z, Antolí A, Arslan S, Assant S, Auguet T, Azot A, Bajolle F, Baldolli A, Ballester M, Feldman H, Barrou B, Beurton A, Bilbao A, Blanchard-Rohner G, Blanco I, Blandinières A, Blazquez-Gamero D, Bloomfield M, Bolivar-Prados M, Borie R, Bosteels C, Bousfiha A, Bouvattier C, Boyarchuk O, Bueno M, Bustamante J, Cáceres Agra J, Calimli S, Capra R, Carrabba M, Casasnovas C, Caseris M, Castelle M, Castelli F, de Vera M, Castro M, Catherinot E, Chalumeau M, Charbit B, Cheng M, Clavé P, Clotet B, Codina A, Colkesen F, Çölkesen F, Colobran R, Comarmond C, Dalmau D, Darley D, Dauby N, Dauger S, de Pontual L, Dehban A, Delplancq G, Demoule A, Diehl J, Dobbelaere S, Durand S, Eldars W, Elgamal M, Elnagdy M, Emiroglu M, Erdeniz E, Aytekin S, Euvrard R, Evcen R, Fabio G, Faivre L, Falck A, Fartoukh M, Faure M, Arquero M, Flores C, Francois B, Fumadó V, Fusco F, Solis B, Gaussem P, Gil-Herrera J, Gilardin L, Alarcon M, Girona-Alarcón M, Goffard J, Gok F, González-Montelongo R, Guerder A, Gul Y, Guner S, Gut M, Hadjadj J, Haerynck F, Halwani R, Hammarström L, Hatipoglu N, Hernandez-Brito E, Heijmans C, Holanda-Peña M, Horcajada J, Hoste L, Hoste E, Hraiech S, Humbert L, Iglesias A, Íñigo-Campos A, Jamme M, Arranz M, Jordan I, Jorens P, Kanat F, Kapakli H, Kara I, Karbuz A, Yasar K, Keles S, Demirkol Y, Klocperk A, Król Z, Kuentz P, Kwan Y, Lagier J, Lambrecht B, Lau Y, Le Bourgeois F, Leo Y, Lopez R, Leung D, Levin M, Levy M, Lévy R, Li Z, Linglart A, Loeys B, Lorenzo-Salazar J, Louapre C, Lubetzki C, Luyt C, Lye D, Mansouri D, Marjani M, Pereira J, Martin A, Pueyo D, Martinez-Picado J, Marzana I, Mathian A, Matos L, Matthews G, Mayaux J, Mège J, Melki I, Meritet J, Metin O, Meyts I, Mezidi M, Migeotte I, Millereux M, Mirault T, Mircher C, Mirsaeidi M, Melián A, Martinez A, Morange P, Mordacq C, Morelle G, Mouly S, Muñoz-Barrera A, Naesens L, Nafati C, Neves J, Ng L, Medina Y, Cuadros E, Ocejo-Vinyals J, Orbak Z, Oualha M, Özçelik T, Pan-Hammarström Q, Parizot C, Pascreau T, Paz-Artal E, Pellegrini S, de Diego R, Philippe A, Philippot Q, Planas-Serra L, Ploin D, Poissy J, Poncelet G, Pouletty M, Quentric P, Raoult D, Rebillat A, Reisli I, Ricart P, Richard J, Rivet N, Rivière J, Blanch G, Rodrigo C, Rodriguez-Gallego C, Rodríguez-Palmero A, Romero C, Rothenbuhler A, Rozenberg F, Ruiz del Prado M, Riera J, Sanchez O, Sánchez-Ramón S, Schluter A, Schmidt M, Schweitzer C, Scolari F, Sediva A, Seijo L, Sene D, Senoglu S, Seppänen M, Ilovich A, Shahrooei M, Slabbynck H, Smadja D, Sobh A, Moreno X, Solé-Violán J, Soler C, Soler-Palacín P, Stepanovskiy Y, Stoclin A, Taccone F, Tandjaoui-Lambiotte Y, Taupin J, Tavernier S, Terrier B, Thumerelle C, Tomasoni G, Toubiana J, Alvarez J, Trouillet-Assant S, Troya J, Tucci A, Ursini M, Uzunhan Y, Vabres P, Valencia-Ramos J, Van Braeckel E, Van de Velde S, Van Den Rym A, Van Praet J, Vandernoot I, Vatansev H, Vélez-Santamaria V, Viel S, Vilain C, Vilaire M, Vincent A, Voiriot G, Vuotto F, Yosunkaya A, Young B, Yucel F, Zannad F, Zatz M, Belot A, Bole-Feysot C, Lyonnet S, Masson C, Nitschke P, Pouliet A, Schmitt Y, Tores F, Zarhrate M, Abel L, Andrejak C, Angoulvant F, Bachelet D, Basmaci R, Behillil S, Beluze M, Benkerrou D, Bhavsar K, Bompart F, Bouadma L, Bouscambert M, Caralp M, Cervantes-Gonzalez M, Chair A, Coelho A, Couffignal C, Couffin-Cadiergues S, D’Ortenzio E, Da Silveira C, Debray M, Deplanque D, Descamps D, Desvallées M, Diallo A, Diouf A, Dorival C, Dubos F, Duval X, Eloy P, Enouf V, Esperou H, Esposito-Farese M, Etienne M, Ettalhaoui N, Gault N, Gaymard A, Ghosn J, Gigante T, Gorenne I, Guedj J, Hoctin A, Hoffmann I, Jaafoura S, Kafif O, Kaguelidou F, Kali S, Khalil A, Khan C, Laouénan C, Laribi S, Le M, Le Hingrat Q, Le Mestre S, Le Nagard H, Lescure F, Lévy Y, Levy-Marchal C, Lina B, Lingas G, Lucet J, Malvy D, Mambert M, Mentré F, Mercier N, Meziane A, Mouquet H, Mullaert J, Neant N, Noret M, Pages J, Papadopoulos A, Paul C, Peiffer-Smadja N, Petrov-Sanchez V, Peytavin G, Picone O, Puéchal O, Rosa-Calatrava M, Rossignol B, Rossignol P, Roy C, Schneider M, Semaille C, Mohammed N, Tagherset L, Tardivon C, Tellier M, Téoulé F, Terrier O, Timsit J, Trioux T, Tual C, Tubiana S, van der Werf S, Vanel N, Veislinger A, Visseaux B, Wiedemann A, Yazdanpanah Y, Alavoine L, Amat K, Behillil S, Bielicki J, Bruijning P, Burdet C, Caumes E, Charpentier C, Coignard B, Costa Y, Couffin-Cadiergues S, Damond F, Dechanet A, Delmas C, Descamps D, Duval X, Ecobichon J, Enouf V, Espérou H, Frezouls W, Houhou N, Ilic-Habensus E, Kafif O, Kikoine J, Le Hingrat Q, Lebeaux D, Leclercq A, Lehacaut J, Letrou S, Lina B, Lucet J, Malvy D, Manchon P, Mandic M, Meghadecha M, Motiejunaite J, Nouroudine M, Piquard V, Postolache A, Quintin C, Rexach J, Roufai L, Terzian Z, Thy M, Tubiana S, van der Werf S, Vignali V, Visseaux B, Yazdanpanah Y, van Agtmael M, Algera A, van Baarle F, Bax D, Beudel M, Bogaard H, Bomers M, Bos L, Botta M, de Brabander J, de Bree G, Brouwer M, de Bruin S, Bugiani M, Bulle E, Chouchane O, Cloherty A, Elbers P, Fleuren L, Geerlings S, Geerts B, Geijtenbeek T, Girbes A, Goorhuis B, Grobusch M, Hafkamp F, Hagens L, Hamann J, Harris V, Hemke R, Hermans S, Heunks L, Hollmann M, Horn J, Hovius J, de Jong M, Koning R, van Mourik N, Nellen J, Paulus F, Peters E, van der Poll T, Preckel B, Prins J, Raasveld J, Reijnders T, Schinkel M, Schultz M, Schuurman A, Sigaloff K, Smit M, Stijnis C, Stilma W, Teunissen C, Thoral P, Tsonas A, van der Valk M, Veelo D, Vlaar A, de Vries H, van Vugt M, Wiersinga W, Wouters D, Zwinderman A, van de Beek D, Abel L, Aiuti A, Al Muhsen S, Al-Mulla F, Anderson M, Arias A, Feldman H, Bogunovic D, Bolze A, Bondarenko A, Bousfiha A, Brodin P, Bryceson Y, Bustamante C, Butte M, Casari G, Chakravorty S, Christodoulou J, Cirulli E, Condino-Neto A, Cooper M, Dalgard C, David A, DeRisi J, Desai M, Drolet B, Espinosa S, Fellay J, Flores C, Franco J, Gregersen P, Haerynck F, Hagin D, Halwani R, Heath J, Henrickson S, Hsieh E, Imai K, Itan Y, Karamitros T, Kisand K, Ku C, Lau Y, Ling Y, Lucas C, Maniatis T, Mansouri D, Marodi L, Meyts I, Milner J, Mironska K, Mogensen T, Morio T, Ng L, Notarangelo L, Novelli A, Novelli G, O’Farrelly C, Okada S, Ozcelik T, de Diego R, Planas A, Prando C, Pujol A, Quintana-Murci L, Renia L, Renieri A, Rodríguez-Gallego C, Sancho-Shimizu V, Sankaran V, Barrett K, Shahrooei M, Snow A, Soler-Palacín P, Spaan A, Tangye S, Turvey S, Uddin F, Uddin M, van de Beek D, Vazquez S, Vinh D, von Bernuth H, Washington N, Zawadzki P, Su H, Casanova J, Jing H, Tung W, Luthers C, Bauman B, Shafer S, Zheng L, Zhang Z, Kubo S, Chauvin S, Meguro K, Shaw E, Lenardo M, Lack J, Karlins E, Hupalo D, Rosenberger J, Sukumar G, Wilkerson M, Zhang X. Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. Science 2020, 370: eabd4570. PMID: 32972995, PMCID: PMC7857407, DOI: 10.1126/science.abd4570.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAged, 80 and overAllelesAsymptomatic InfectionsBetacoronavirusChildChild, PreschoolCoronavirus InfectionsCOVID-19FemaleGenetic LociGenetic Predisposition to DiseaseHumansInfantInterferon Regulatory Factor-7Interferon Type ILoss of Function MutationMaleMiddle AgedPandemicsPneumonia, ViralReceptor, Interferon alpha-betaSARS-CoV-2Toll-Like Receptor 3Young AdultConceptsLife-threatening COVID-19 pneumoniaCOVID-19 pneumoniaSevere acute respiratory syndrome coronavirus 2Type I interferon immunityAcute respiratory syndrome coronavirus 2Life-threatening COVID-19Respiratory syndrome coronavirus 2Toll-like receptor 3Inborn errorsSyndrome coronavirus 2Coronavirus disease 2019Interferon regulatory factor 7Years of ageAutosomal-dominant deficiencySARS-CoV-2Rare variantsRegulatory factor 7Patients 17Clinical outcomesCoronavirus 2Silent infectionSevere infectionsDisease 2019Benign infectionReceptor 3
2019
Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis
Timberlake AT, Jin SC, Nelson-Williams C, Wu R, Furey CG, Islam B, Haider S, Loring E, Galm A, Steinbacher D, Larysz D, Staffenberg D, Flores R, Rodriguez E, Boggon T, Persing J, Lifton R, Lifton RP, Gunel M, Mane S, Bilguvar K, Gerstein M, Loring E, Nelson-Williams C, Lopez F, Knight J. Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis. Proceedings Of The National Academy Of Sciences Of The United States Of America 2019, 116: 15116-15121. PMID: 31292255, PMCID: PMC6660739, DOI: 10.1073/pnas.1902041116.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAlpha CateninChildChild, PreschoolCraniosynostosesExomeExome SequencingFemaleGene ExpressionGlypicansHistone AcetyltransferasesHumansMaleMutationNuclear ProteinsPedigreeRisk AssessmentSignal TransductionSkullSOXC Transcription FactorsTranscription Factor AP-2Zinc Finger Protein Gli2ConceptsRare damaging mutationsSyndromic craniosynostosisCongenital anomaliesDamaging mutationsSyndromic casesExome sequencingAdditional congenital anomaliesFrequent congenital anomaliesDamaging de novo mutationsNeural crest cell migrationDamaging de novoCrest cell migrationCS patientsMutation burdenChromatin modifiersSubsequent childrenTranscription factorsDe novo mutationsCS casesCS geneHedgehog pathwayDisease locusPremature fusionFunction mutationsCraniosynostosis
2018
Loss of Protocadherin‐12 Leads to Diencephalic‐Mesencephalic Junction Dysplasia Syndrome
Guemez‐Gamboa A, Çağlayan AO, Stanley V, Gregor A, Zaki M, Saleem SN, Musaev D, McEvoy‐Venneri J, Belandres D, Akizu N, Silhavy JL, Schroth J, Rosti RO, Copeland B, Lewis SM, Fang R, Issa MY, Per H, Gumus H, Bayram AK, Kumandas S, Akgumus GT, Erson‐Omay E, Yasuno K, Bilguvar K, Heimer G, Pillar N, Shomron N, Weissglas‐Volkov D, Porat Y, Einhorn Y, Gabriel S, Ben‐Zeev B, Gunel M, Gleeson JG. Loss of Protocadherin‐12 Leads to Diencephalic‐Mesencephalic Junction Dysplasia Syndrome. Annals Of Neurology 2018, 84: 638-647. PMID: 30178464, PMCID: PMC6510237, DOI: 10.1002/ana.25327.Peer-Reviewed Original ResearchConceptsBrainstem malformationDysplasia syndromeEndothelial cellsBiallelic mutationsAutosomal recessive malformationSuch pathogenic variantsCharacteristic clinical presentationPatient-derived induced pluripotent stem cellsWhite matter tractsAnn NeurolAppendicular spasticityBrain calcificationClinical presentationPoor outcomeAxial hypotoniaPsychomotor disabilityProgressive microcephalyTract defectsPathogenic variantsPhenotypic spectrumPatientsCraniofacial dysmorphismBrain imagingNeural precursorsProtein expression
2017
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
Jin SC, Homsy J, Zaidi S, Lu Q, Morton S, DePalma SR, Zeng X, Qi H, Chang W, Sierant MC, Hung WC, Haider S, Zhang J, Knight J, Bjornson RD, Castaldi C, Tikhonoa IR, Bilguvar K, Mane SM, Sanders SJ, Mital S, Russell MW, Gaynor JW, Deanfield J, Giardini A, Porter GA, Srivastava D, Lo CW, Shen Y, Watkins WS, Yandell M, Yost HJ, Tristani-Firouzi M, Newburger JW, Roberts AE, Kim R, Zhao H, Kaltman JR, Goldmuntz E, Chung WK, Seidman JG, Gelb BD, Seidman CE, Lifton RP, Brueckner M. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nature Genetics 2017, 49: 1593-1601. PMID: 28991257, PMCID: PMC5675000, DOI: 10.1038/ng.3970.Peer-Reviewed Original ResearchMeSH KeywordsAdultAutistic DisorderCardiac MyosinsCase-Control StudiesChildExomeFemaleGene ExpressionGenetic Predisposition to DiseaseGenome-Wide Association StudyGrowth Differentiation Factor 1Heart Defects, CongenitalHeterozygoteHigh-Throughput Nucleotide SequencingHomozygoteHumansMaleMutationMyosin Heavy ChainsPedigreeRiskVascular Endothelial Growth Factor Receptor-3De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis
Timberlake AT, Furey CG, Choi J, Nelson-Williams C, Loring E, Galm A, Kahle K, Steinbacher D, Larysz D, Persing J, Lifton R, Bilguvar K, Mane S, Tikhonova I, Castaldi C, Knight J. De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis. Proceedings Of The National Academy Of Sciences Of The United States Of America 2017, 114: e7341-e7347. PMID: 28808027, PMCID: PMC5584457, DOI: 10.1073/pnas.1709255114.Peer-Reviewed Original ResearchConceptsBone morphogenetic proteinRas/ERKDe novo mutationsNovo mutationsRas/ERK pathwayDamaging de novo mutationsHigh locus heterogeneityRare syndromic diseaseCommon risk variantsInhibitor of WntSyndromic craniosynostosesNew genesParent-offspring triosSyndromic diseaseMorphogenetic proteinsNegative regulatorERK pathwayMore cranial suturesGenesMidline craniosynostosisRisk variantsWntLocus heterogeneityMutationsExome sequencing
2016
Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly
Li H, Bielas SL, Zaki MS, Ismail S, Farfara D, Um K, Rosti RO, Scott EC, Tu S, C. NC, Gabriel S, Erson-Omay EZ, Ercan-Sencicek AG, Yasuno K, Çağlayan AO, Kaymakçalan H, Ekici B, Bilguvar K, Gunel M, Gleeson JG. Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly. American Journal Of Human Genetics 2016, 99: 501-510. PMID: 27453578, PMCID: PMC4974110, DOI: 10.1016/j.ajhg.2016.07.004.Peer-Reviewed Original ResearchConceptsInduced pluripotent stem cellsPrimary microcephalyHuman primary microcephalyAutosomal recessive primary microcephalyNon-progressive intellectual disabilityAmino acid residuesPluripotent stem cellsMitotic cytokinesisCellular functionsGenome editingCell divisionKinase domainAbnormal cytokinesisCRISPR/Homozygous missense mutationCytokinesisKinase activityMultipolar spindlesNeural progenitorsAcid residuesFunction mutationsMissense mutationsStem cellsMultiple rolesMutationsOverlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports
Brownstein CA, Kleiman RJ, Engle EC, Towne MC, D'Angelo EJ, Yu TW, Beggs AH, Picker J, Fogler JM, Carroll D, Schmitt RC, Wolff RR, Shen Y, Lip V, Bilguvar K, Kim A, Tembulkar S, O'Donnell K, Gonzalez-Heydrich J. Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports. American Journal Of Medical Genetics Part A 2016, 170: 1165-1173. PMID: 26887912, PMCID: PMC4833544, DOI: 10.1002/ajmg.a.37595.Peer-Reviewed Original Research
2015
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
Homsy J, Zaidi S, Shen Y, Ware JS, Samocha KE, Karczewski KJ, DePalma SR, McKean D, Wakimoto H, Gorham J, Jin SC, Deanfield J, Giardini A, Porter GA, Kim R, Bilguvar K, López-Giráldez F, Tikhonova I, Mane S, Romano-Adesman A, Qi H, Vardarajan B, Ma L, Daly M, Roberts AE, Russell MW, Mital S, Newburger JW, Gaynor JW, Breitbart RE, Iossifov I, Ronemus M, Sanders SJ, Kaltman JR, Seidman JG, Brueckner M, Gelb BD, Goldmuntz E, Lifton RP, Seidman CE, Chung WK. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science 2015, 350: 1262-1266. PMID: 26785492, PMCID: PMC4890146, DOI: 10.1126/science.aac9396.Peer-Reviewed Original ResearchConceptsCongenital anomaliesNeurodevelopmental disabilitiesCongenital heart disease patientsDe novo mutationsExtracardiac congenital anomaliesImproved prognostic assessmentEarly therapeutic interventionHeart disease patientsCongenital heart diseaseNovo mutationsCHD patientsDisease patientsHeart diseasePrognostic assessmentCHD casesTherapeutic interventionsPatientsExome sequencingCHDParent-offspring triosMultiple mutationsGenetic contributionMutationsChromatin modificationsTranscriptional regulation
2014
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation
Tüysüz B, Yılmaz S, Erener-Ercan T, Bilguvar K, Günel M. Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation. Pediatric Radiology 2014, 45: 771-776. PMID: 25256152, DOI: 10.1007/s00247-014-3159-x.Peer-Reviewed Original ResearchConceptsYears of ageShort statureRadiologic findingsJoint laxityMidface hypoplasiaLeptodactylic typeSevere genu valgumTypical radiologic findingsPostnatal short statureDe novo p.Whole-exome sequencingInitial radiographsSevere involvementRadiographic findingsHip dislocationGenu valgumKnee subluxationLigamentous laxitySmall epiphysisRare disorderDistal metaphysisProximal phalanxRadiologic hallmarksNovo p.First examinationNGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy
Caglayan AO, Comu S, Baranoski JF, Parman Y, Kaymakçalan H, Akgumus GT, Caglar C, Dolen D, Erson-Omay EZ, Harmanci AS, Mishra-Gorur K, Freeze HH, Yasuno K, Bilguvar K, Gunel M. NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy. European Journal Of Medical Genetics 2014, 58: 39-43. PMID: 25220016, PMCID: PMC4804755, DOI: 10.1016/j.ejmg.2014.08.008.Peer-Reviewed Original ResearchConceptsN-glycanase 1Proteasome-mediated degradationConserved enzymeFrame-shift mutationApparent intellectual disabilityBase pair deletionNeuromotor impairmentNovel homozygous frame-shift mutationHomozygous frame-shift mutationNeuronal cellsPair deletionAmyotrophic lateral sclerosisIntellectual disabilityMutationsProteinNeurological functionCorneal opacityNeurologic diseaseLateral sclerosisParkinson's diseaseProgressive lossDiseaseCytoplasmImpairmentDeletionHomozygous loss of DIAPH1 is a novel cause of microcephaly in humans
Ercan-Sencicek AG, Jambi S, Franjic D, Nishimura S, Li M, El-Fishawy P, Morgan TM, Sanders SJ, Bilguvar K, Suri M, Johnson MH, Gupta AR, Yuksel Z, Mane S, Grigorenko E, Picciotto M, Alberts AS, Gunel M, Šestan N, State MW. Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. European Journal Of Human Genetics 2014, 23: 165-172. PMID: 24781755, PMCID: PMC4297910, DOI: 10.1038/ejhg.2014.82.Peer-Reviewed Original ResearchConceptsCell divisionFamily-based linkage analysisLinkage analysisRho effector proteinsLinear actin filamentsMaintenance of polarityMitotic cell divisionHigh-throughput sequencingRare genetic variantsHuman neuronal precursor cellsParametric multipoint linkage analysisActivation of GTPNeuronal precursor cellsFormin familyMammalian DiaphanousEffector proteinsMultipoint linkage analysisSpindle formationActin filamentsNonsense alterationWhole-exome sequencingHuman pathologiesNeuroepithelial cellsGenetic variantsHomozygous loss
2011
Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism
Fernandez TV, Sanders SJ, Yurkiewicz IR, Ercan-Sencicek AG, Kim YS, Fishman DO, Raubeson MJ, Song Y, Yasuno K, Ho WS, Bilguvar K, Glessner J, Chu SH, Leckman JF, King RA, Gilbert DL, Heiman GA, Tischfield JA, Hoekstra PJ, Devlin B, Hakonarson H, Mane SM, Günel M, State MW. Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism. Biological Psychiatry 2011, 71: 392-402. PMID: 22169095, PMCID: PMC3282144, DOI: 10.1016/j.biopsych.2011.09.034.Peer-Reviewed Original ResearchConceptsCopy number variationsRare copy number variationsNovel risk regionsEnrichment of genesGamma-aminobutyric acid receptor genesNervous system developmentEtiology of TSParent-child triosRare copy number variantsCopy number variantsGene mappingPathway analysisDe novo eventsAxon guidanceCell adhesionMolecular pathwaysNumber variationsRelevant pathwaysCNV analysisNumber variantsGenesReceptor geneDe novoNovo eventsPathwayMultiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC, McGrew AD, Meyer KA, Moffat WJ, Murdoch JD, O'Roak BJ, Ober GT, Pottenger RS, Raubeson MJ, Song Y, Wang Q, Yaspan BL, Yu TW, Yurkiewicz IR, Beaudet AL, Cantor RM, Curland M, Grice DE, Günel M, Lifton RP, Mane SM, Martin DM, Shaw CA, Sheldon M, Tischfield JA, Walsh CA, Morrow EM, Ledbetter DH, Fombonne E, Lord C, Martin CL, Brooks AI, Sutcliffe JS, Cook EH, Geschwind D, Roeder K, Devlin B, State MW. Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism. Neuron 2011, 70: 863-885. PMID: 21658581, PMCID: PMC3939065, DOI: 10.1016/j.neuron.2011.05.002.Peer-Reviewed Original ResearchAdolescentCadherinsCalcium-Binding ProteinsCell Adhesion Molecules, NeuronalChildChild Development Disorders, PervasiveChild, PreschoolChromosomes, Human, Pair 16Chromosomes, Human, Pair 7Chromosomes, Human, XDNA Copy Number VariationsFamily HealthFemaleGene DuplicationGene Expression ProfilingGenome-Wide Association StudyGenotypeHumansMaleNerve Tissue ProteinsNeural Cell Adhesion MoleculesOligonucleotide Array Sequence AnalysisPhenotypeProteinsSiblingsUbiquitin ThiolesteraseUbiquitin-Specific Peptidase 7Williams Syndrome