2021
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
Richard EM, Bakhtiari S, Marsh APL, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, Nordlie SM, Guida BS, Cornejo P, Magee H, Liu J, Norton BY, Webster RI, Worgan L, Hakonarson H, Li J, Guo Y, Jain M, Blesson A, Rodan LH, Abbott MA, Comi A, Cohen JS, Alhaddad B, Meitinger T, Lenz D, Ziegler A, Kotzaeridou U, Brunet T, Chassevent A, Smith-Hicks C, Ekstein J, Weiden T, Hahn A, Zharkinbekova N, Turnpenny P, Tucci A, Yelton M, Horvath R, Gungor S, Hiz S, Oktay Y, Lochmuller H, Zollino M, Morleo M, Marangi G, Nigro V, Torella A, Pinelli M, Amenta S, Husain RA, Grossmann B, Rapp M, Steen C, Marquardt I, Grimmel M, Grasshoff U, Korenke GC, Owczarek-Lipska M, Neidhardt J, Radio FC, Mancini C, Claps Sepulveda DJ, McWalter K, Begtrup A, Crunk A, Guillen Sacoto MJ, Person R, Schnur RE, Mancardi MM, Kreuder F, Striano P, Zara F, Chung WK, Marks WA, van Eyk CL, Webber DL, Corbett MA, Harper K, Berry JG, MacLennan AH, Gecz J, Tartaglia M, Salpietro V, Christodoulou J, Kaslin J, Padilla-Lopez S, Bilguvar K, Munchau A, Ahmed ZM, Hufnagel RB, Fahey MC, Maroofian R, Houlden H, Sticht H, Mane SM, Rad A, Vona B, Jin SC, Haack TB, Makowski C, Hirsch Y, Riazuddin S, Kruer MC. Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. American Journal Of Human Genetics 2021, 108: 2006-2016. PMID: 34626583, PMCID: PMC8546233, DOI: 10.1016/j.ajhg.2021.08.003.Peer-Reviewed Original ResearchConceptsSensorineural hearing lossCerebral palsyHearing lossBi-allelic variantsInner earRodent inner earDevelopmental delay/intellectual disabilityThin corpus callosumGlial cell nucleiIntellectual disabilityRat hippocampal neuronsWhite matter volumeNeurosensory hair cellsPeriventricular leukomalaciaQuantitative volumetryCerebral volumeCorpus callosumHippocampal neuronsMatter volumeReceptor functionBrain imagingHair cellsProminent expressionNeurodevelopmental phenotypesAffected individuals
2017
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy
Yoo Y, Jung J, Lee Y, Lee Y, Cho H, Na E, Hong J, Kim E, Lee JS, Lee JS, Hong C, Park S, Wie J, Miller K, Shur N, Clow C, Ebel RS, DeBrosse SD, Henderson LB, Willaert R, Castaldi C, Tikhonova I, Bilgüvar K, Mane S, Kim KJ, Hwang YS, Lee S, So I, Lim BC, Choi H, Seong JY, Shin YB, Jung H, Chae J, Choi M. GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. Annals Of Neurology 2017, 82: 466-478. PMID: 28856709, DOI: 10.1002/ana.25032.Peer-Reviewed Original ResearchConceptsRett syndromeGenetic factorsAppropriate medical interventionΓ-aminobutyric acid signalingDistinct diagnostic criteriaDevastating neurodevelopmental disorderWhole-exome sequencingAnn NeurolClinical featuresEE patientsEpileptic encephalopathyDe novo variantsNovel genetic factorsDiagnostic criteriaAnimal modelsMedical interventionsAccurate diagnosisReceptor activityReceptor functionSpecific molecular mechanismsPatientsRTT-like patientsNeurodevelopmental disordersNovo variantsMECP2 mutations