Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant

N Lebrun; P Parent; J Gendras; P Billuart; K Poirier; T Bienvenu

doi:10.1111/cge.13073

Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant

Clin Genet. 2017 Dec;92(6):669-670. doi: 10.1111/cge.13073. Epub 2017 Sep 28.

Authors

N Lebrun^{1

2

3}, P Parent⁴, J Gendras⁴, P Billuart^{1

2

3}, K Poirier^{1

2

3}, T Bienvenu^{1

2

3

5}

Affiliations

¹ Inserm, U1016, Institut Cochin, Paris, France.
² CNRS, UMR8104, Paris, France.
³ Sorbonne Paris Cité, Université Paris Descartes, Paris, France.
⁴ Centre de Ressources Autisme de Bretagne, CHRU Brest, Hôpital de Bohars, Bohars, France.
⁵ Laboratoire de Génétique et Biologie Moléculaires, Hôpital Cochin, HUPC, AP-HP, Paris, France.

PMID: 28960266
DOI: 10.1111/cge.13073

Abstract

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.

Keywords: Autism spectrum disorders; CHD2; exome; germinal mosaicism.

Publication types

Letter

MeSH terms

Amino Acid Sequence
Autism Spectrum Disorder / genetics*
Autism Spectrum Disorder / physiopathology
Child
DNA-Binding Proteins / genetics*
Exome
Female
Gene Expression
Humans
Intellectual Disability / genetics*
Intellectual Disability / physiopathology
Male
Models, Molecular
Mosaicism*
Mutation, Missense*
Paternal Inheritance*
Pedigree
Protein Structure, Secondary
Sequence Alignment
Sequence Homology, Amino Acid
Siblings
Young Adult

Substances

CHD2 protein, human
DNA-Binding Proteins