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Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant
Author(s) -
Lebrun N.,
Parent P.,
Gendras J.,
Billuart P.,
Poirier K.,
Bienvenu T.
Publication year - 2017
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13073
Subject(s) - missense mutation , germline , genetics , autism spectrum disorder , gene , germline mosaicism , biology , autism , mutation , medicine , psychiatry
Germline mosaicism for a novel missense variant p.Thr645Met located in the SNF2‐related ATP dependent helicase domain of CHD2 in 2 affected siblings with autism spectrum disorder.