2021
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus
Galosi S, Edani BH, Martinelli S, Hansikova H, Eklund EA, Caputi C, Masuelli L, Corsten-Janssen N, Srour M, Oegema R, Bosch DGM, Ellis CA, Amlie-Wolf L, Accogli A, Atallah I, Averdunk L, Barañano KW, Bei R, Bagnasco I, Brusco A, Demarest S, Alaix AS, Di Bonaventura C, Distelmaier F, Elmslie F, Gan-Or Z, Good JM, Gripp K, Kamsteeg EJ, Macnamara E, Marcelis C, Mercier N, Peeden J, Pizzi S, Pannone L, Shinawi M, Toro C, Verbeek NE, Venkateswaran S, Wheeler PG, Zdrazilova L, Zhang R, Zorzi G, Guerrini R, Sessa WC, Lefeber DJ, Tartaglia M, Hamdan FF, Grabińska KA, Leuzzi V. De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus. Brain 2021, 145: 208-223. PMID: 34382076, PMCID: PMC8967098, DOI: 10.1093/brain/awab299.Peer-Reviewed Original ResearchConceptsRetinitis pigmentosaNeurodegenerative disordersMovement disordersDe novo pathogenic variantsHypokinetic movement disordersCongenital disorderLong-term outcomesNeurodevelopmental disordersNovo pathogenic variantsNeuronal ceroid lipofuscinosisProgressive myoclonus epilepsyDisease courseNeurological declineClinical featuresProgressive encephalopathyPsychiatric disturbancesMyelinated fibersLarge cohortCortical tremorCognitive deteriorationDisease-causing variantsEndosomal-lysosomal pathwayAutosomal recessive formPathogenic variantsAltered lysosomes
2019
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N, Corbett M, MacLennan A, Gecz J, Biskup S, Goldmann E, Rodan L, Kichula E, Segal E, Jackson K, Asamoah A, Dimmock D, McCarrier J, Botto L, Filloux F, Tvrdik T, Cascino G, Klingerman S, Neumann C, Wang R, Jacobsen J, Nolan M, Snell R, Lehnert K, Sadleir L, Anderlid B, Kvarnung M, Guerrini R, Friez M, Lyons M, Leonhard J, Kringlen G, Casas K, Achkar C, Smith E, Rotenberg A, Poduri A, Sanchis-Juan A, Carss K, Rankin J, Zeman A, Raymond F, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S, Hedrich U, Scheffer I, Helbig I, Zamponi G, Lerche H, Mefford H, Allori A, Angrist M, Ashley P, Bidegain M, Boyd B, Chambers E, Cope H, Cotten C, Curington T, Davis E, Ellestad S, Fisher K, French A, Gallentine W, Goldberg R, Hill K, Kansagra S, Katsanis S, Katsanis S, Kurtzberg J, Marcus J, McDonald M, Mikati M, Miller S, Murtha A, Perilla Y, Pizoli C, Purves T, Ross S, Sadeghpour A, Smith L, Wiener J. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. American Journal Of Human Genetics 2019, 104: 562. PMID: 30849329, PMCID: PMC6407522, DOI: 10.1016/j.ajhg.2019.02.015.Peer-Reviewed Original Research
2018
Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature
Xu Q, Li CY, Wang Y, Li HP, Wu BB, Jiang YH, Xu X. Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature. BMC Medical Genomics 2018, 11: 92. PMID: 30352594, PMCID: PMC6199733, DOI: 10.1186/s12920-018-0421-3.Peer-Reviewed Original ResearchConceptsChinese Han patientsHan patientsNovo pathogenic variantsClinical whole exome sequencingDysmorphic facial featuresNovo nonsense variantWhole-exome sequencingRare microdeletion syndromeClinical featuresCase reportSpinal anomaliesPathogenic variantsRelated disordersGrowth retardationPUF60 geneConclusionsOur findingsSyndromeExome sequencingNonsense variantMicrodeletion syndromeIntellectual disabilityPatientsFunction mutationsPUF60Chromosome 8q24.3De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N, Genomics T, Allori A, Angrist M, Ashley P, Bidegain M, Boyd B, Chambers E, Cope H, Cotten C, Curington T, Davis E, Ellestad S, Fisher K, French A, Gallentine W, Goldberg R, Hill K, Kansagra S, Katsanis N, Katsanis S, Kurtzberg J, Marcus J, McDonald M, Mikati M, Miller S, Murtha A, Perilla Y, Pizoli C, Purves T, Ross S, Sadeghpour A, Smith E, Wiener J, Corbett M, MacLennan A, Gecz J, Biskup S, Goldmann E, Rodan L, Kichula E, Segal E, Jackson K, Asamoah A, Dimmock D, McCarrier J, Botto L, Filloux F, Tvrdik T, Cascino G, Klingerman S, Neumann C, Wang R, Jacobsen J, Nolan M, Snell R, Lehnert K, Sadleir L, Anderlid B, Kvarnung M, Guerrini R, Friez M, Lyons M, Leonhard J, Kringlen G, Casas K, Achkar C, Smith L, Rotenberg A, Poduri A, Sanchis-Juan A, Carss K, Rankin J, Zeman A, Raymond F, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S, Study D, Hedrich U, Scheffer I, Helbig I, Zamponi G, Lerche H, Mefford H. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. American Journal Of Human Genetics 2018, 103: 666-678. PMID: 30343943, PMCID: PMC6216110, DOI: 10.1016/j.ajhg.2018.09.006.Peer-Reviewed Original ResearchConceptsR-type calcium currentsEpileptic encephalopathyCalcium currentPathogenic variantsDevelopmental impairmentR-type calcium channelsDe novo pathogenic variantsCause of DEEProfound developmental impairmentHyperkinetic movement disordersNovo pathogenic variantsAnti-epileptic drug topiramateCentral nervous systemAbundant epileptiform activityVoltage-gated CaSevere neurodevelopmental disorderSeizure freedomInfantile-onset seizuresIntractable seizuresEpileptiform activityVoltage-dependent activationMovement disordersSevere hypotoniaHuman epilepsySynaptic transmissionDe novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy
Sega AG, Mis EK, Lindstrom K, Mercimek-Andrews S, Ji W, Cho MT, Juusola J, Konstantino M, Jeffries L, Khokha MK, Lakhani SA. De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy. Journal Of Medical Genetics 2018, 56: 113. PMID: 30323019, DOI: 10.1136/jmedgenet-2018-105322.Peer-Reviewed Original ResearchConceptsEarly infantile epileptic encephalopathyInfantile epileptic encephalopathyEpileptic encephalopathyPatient variantsDe novo pathogenic variantsNovel de novo variantNovo pathogenic variantsEarly-onset refractory seizuresDifferentiation factor 2Whole-exome sequencingNeuronal differentiation factorRefractory seizuresSignificant developmental delaySpontaneous seizuresUnderlying etiologyEctopic neuronsDe novo variantsPatient's conditionEncephalopathyPathogenic variantsSevere disordersDevelopmental delayUnrelated childrenExome sequencingGene mutations
2015
De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features
Tanaka AJ, Cho MT, Retterer K, Jones JR, Nowak C, Douglas J, Jiang YH, McConkie-Rosell A, Schaefer GB, Kaylor J, Rahman OA, Telegrafi A, Friedman B, Douglas G, Monaghan KG, Chung WK. De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features. Molecular Case Studies 2015, 2: a000661. PMID: 27148580, PMCID: PMC4849844, DOI: 10.1101/mcs.a000661.Peer-Reviewed Original ResearchDysmorphic facial featuresZinc finger proteinGlobal developmental delayDevelopmental delayIntellectual disabilityFinger proteinSignificant global developmental delayMicrotubule attachmentChromosome alignmentCell divisionDe novo mutationsDe novo pathogenic variantsNovo pathogenic variantsCHAMP1Phosphoprotein 1De novoNovo mutationsUnrelated individualsFunction variantsPathogenic variantsBrain developmentMutations
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