2. Academic Validation
  3. The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter

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

  • Am J Med Genet A. 2018 Jul;176(7):1667-1669. doi: 10.1002/ajmg.a.38835.
Andrea Klunder Petersen 1 2 3,  Haley Streff 1 4,  Mari Tokita 1,  Bret L Bostwick 1 4
Affiliations

Affiliations

  • 1 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • 2 Department of Pediatrics, Baylor College of Medicine, Houston, Texas.
  • 3 Randall Children's Hospital, Portland, Oregon.
  • 4 Texas Children's Hospital, Houston, Texas.
PMID: 29740950 DOI: 10.1002/ajmg.a.38835
Abstract

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.

Keywords

CHD2; DNA-binding proteins; RefSeq NM_001271; chromodomain helicase; epileptic encephalopathy; inherited; neurodevelopmental disorders; seizure disorder.

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