The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter

Pathogenic variants in CHD2 (chromodomain helicase DNA‐binding protein 2) have been reported in neurodevelopmental disorders with a broad spectrum of phenotypic variability, ranging from mild intellectual disability to atonic‐myoclonic epilepsy. However, given the paucity of reported cases the exten...

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Bibliographic Details
Published inAmerican journal of medical genetics. Part A Vol. 176; no. 7; pp. 1667 - 1669
Main Authors Petersen, Andrea Klunder, Streff, Haley, Tokita, Mari, Bostwick, Bret L.
Format Journal Article
LanguageEnglish
Published United States Wiley Subscription Services, Inc 01.07.2018
Subjects
CHD2
chromodomain helicase
DNA helicase
DNA‐binding proteins
Epilepsy
epileptic encephalopathy
Genetic variability
Heritability
inherited
Neurodevelopmental disorders
Phenotypes
RefSeq NM_001271
seizure disorder
RefSeq NM_001271
inherited
seizure disorder
CHD2
neurodevelopmental disorders
DNA-binding proteins
epileptic encephalopathy
chromodomain helicase
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Summary:Pathogenic variants in CHD2 (chromodomain helicase DNA‐binding protein 2) have been reported in neurodevelopmental disorders with a broad spectrum of phenotypic variability, ranging from mild intellectual disability to atonic‐myoclonic epilepsy. However, given the paucity of reported cases the extent of this phenotypic spectrum is currently unknown. Furthermore, all confirmed pathogenic CHD2 variants reported to date have been de novo, preventing the study of intrafamilial phenotypic heterogeneity and creating ambiguity regarding recurrence risk, penetrance, and expressivity. Here, we report the first known case of an inherited pathogenic CHD2 variant in affected mother and daughter. This case demonstrates intrafamilial phenotypic heterogeneity and confirms potential heritability of CHD2‐related neurodevelopmental disorders.
Bibliography:Funding information
Ruth L. Kirschstein Institutional National Research Service Award, Grant/Award Number: T32 GM007526‐39
ObjectType-Case Study-2
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ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.38835