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Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.

dc.rights.licenseopenen_US
dc.contributor.authorLINES, Matthew A
dc.contributor.authorGOLDENBERG, Paula
dc.contributor.authorWONG, Ashley
dc.contributor.authorSRIVASTAVA, Siddharth
dc.contributor.authorBAYAT, Allan
dc.contributor.authorHOVE, Hanne
dc.contributor.authorKARSTENSEN, Helena Gásdal
dc.contributor.authorANYANE-YEBOA, Kwame
dc.contributor.authorLIAO, Jun
dc.contributor.authorJIANG, Nan
dc.contributor.authorMAY, Alison
dc.contributor.authorGUZMAN, Edwin
dc.contributor.authorMORLEO, Manuela
dc.contributor.authorD'ARRIGO, Stefano
dc.contributor.authorCIACCIO, Claudia
dc.contributor.authorPANTALEONI, Chiara
dc.contributor.authorCASTELLO, Raffaele
dc.contributor.authorMCKEE, Shane
dc.contributor.authorONG, Jinfon
dc.contributor.authorZIBDEH-LOUGH, Hana
dc.contributor.authorTRAN MAU THEM, Frederic
dc.contributor.authorGERASIMENKO, Anna
dc.contributor.authorHERON, Delphine
dc.contributor.authorKEREN, Boris
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorMARGOT, Henri
dc.contributor.authorDE SAINTE AGATHE, Jean-Madeleine
dc.contributor.authorBURGLEN, Lydie
dc.contributor.authorVOETS, Thomas
dc.contributor.authorVRIENS, Joris
dc.contributor.authorINNES, A. Micheil
dc.contributor.authorDYMENT, David A
dc.date.accessioned2023-06-27T12:42:25Z
dc.date.available2023-06-27T12:42:25Z
dc.date.issued2022-06-01
dc.identifier.issn1552-4833en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/182845
dc.description.abstractEnTRPM3 encodes a transient receptor potential cation channel of the melastatin family, expressed in the central nervous system and in peripheral sensory neurons of the dorsal root ganglia. The recurrent substitution in TRPM3: c.2509G>A, p.(Val837Met) has been associated with syndromic intellectual disability and seizures. In this report, we present the clinical and molecular features of seven previously unreported individuals, identified by exome sequencing, with the recurrent p.(Val837Met) variant and global developmental delay. Other shared clinical features included congenital hypotonia, dysmorphic facial features (broad forehead, deep-set eyes, and down turned mouth), exotropia, and musculoskeletal issues (hip dysplasia, hip dislocation, scoliosis). Seizures were observed in two of seven individuals (febrile seizure in one and generalized tonic-clonic seizures with atonic drops in another), and epileptiform activity was observed in an additional two individuals. This report extends the number of affected individuals to 16 who are heterozygous for the de novo recurrent substitution p.(Val837Met). In contrast with the initial report, epilepsy was not a mandatory feature observed in this series. TRPM3 pathogenic variation should be considered in individuals with global developmental delays, moderate-severe intellectual disability with, or without, childhood-onset epilepsy.
dc.language.isoENen_US
dc.subjectGenematcher
dc.subjectGlobal developmental delay
dc.subjectIntellectual disability
dc.subjectSeizures
dc.subjectTRPM3
dc.title.enPhenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.
dc.title.alternativeAm J Med Genet Aen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1002/ajmg.a.62673en_US
dc.identifier.pubmed35146895en_US
bordeaux.journalAmerican Journal of Medical Genetics Part Aen_US
bordeaux.page1667-1675en_US
bordeaux.volume188en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue6en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.identifier.funderIDFondazione Telethonen_US
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