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CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum

dc.rights.licenseopenen_US
dc.contributor.authorPALMER, Elizabeth E.
dc.contributor.authorWHITTON, Chloe
dc.contributor.authorHASHEM, Mais O.
dc.contributor.authorCLARK, Robin D.
dc.contributor.authorRAMANATHAN, Subhadra
dc.contributor.authorSTARR, Lois J.
dc.contributor.authorVELASCO, Danita
dc.contributor.authorDE DIOS, John Karl
dc.contributor.authorSINGH, Emily
dc.contributor.authorCORMIER-DAIRE, Valerie
dc.contributor.authorCHOPRA, Maya
dc.contributor.authorRODAN, Lance H.
dc.contributor.authorNELLAKER, Christoffer
dc.contributor.authorLAKHANI, Shenela
dc.contributor.authorMALLACK, Eric J.
dc.contributor.authorPANZER, Karin
dc.contributor.authorSIDHU, Alpa
dc.contributor.authorWENTZENSEN, Ingrid M.
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorLACOMBE, Didier
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorMICHAUD, Vincent
dc.contributor.authorALKURAYA, Fowzan S.
dc.date.accessioned2021-10-26T09:15:44Z
dc.date.available2021-10-26T09:15:44Z
dc.date.issued2021-07-01
dc.identifier.issn0009-9163 (print) 1399-0004 (online)en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/112875
dc.description.abstractEnWe describe the clinical features of nine unrelated individuals with rare de novo missense or in-frame deletions/duplications within the « HX motif » of exon 7 of ATN1. We previously proposed that individuals with such variants should be considered as being affected by the syndromic condition of congenital hypotonia, epilepsy, developmental delay, and digital anomalies (CHEDDA), distinct from dentatorubral-pallidoluysian atrophy (DRPLA) secondary to expansion variants in exon 5 of ATN1. We confirm that the universal phenotypic features of CHEDDA are distinctive facial features and global developmental delay. Infantile hypotonia and minor hand and feet differences are common and can present as arthrogryposis. Common comorbidities include severe feeding difficulties, often requiring gastrostomy support, as well as visual and hearing impairments. Epilepsy and congenital malformations of the brain, heart, and genitourinary systems are frequent but not universal. Our study confirms the clinical entity of CHEDDA secondary to a mutational signature restricted to exon 7 of ATN1. We propose a clinical schedule for assessment upon diagnosis, surveillance, and early intervention including the potential of neuroimaging for prognostication.
dc.language.isoENen_US
dc.subject.enArthrogryposis
dc.subject.enDevelopmental delay
dc.subject.enGenetics
dc.subject.enGenomics
dc.subject.enIntellectual disability
dc.subject.enNeurodevelopmental disorder
dc.subject.enRare diseases
dc.title.enCHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum
dc.typeArticle de revueen_US
dc.identifier.doi10.1111/cge.14022en_US
dc.subject.halSciences du Vivant [q-bio]/Médecine humaine et pathologieen_US
dc.identifier.pubmed34212383en_US
bordeaux.journalClinical Geneticsen_US
bordeaux.page468-477en_US
bordeaux.volume100en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue4en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.identifierhal-03403523
hal.version1
hal.date.transferred2021-10-26T09:15:50Z
hal.exporttrue
dc.rights.ccPas de Licence CCen_US
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