Germline mosaicism in a family with MBD5 haploinsufficiency.
Cold Spring Harb Mol Case Stud
; 8(7)2022 12.
Article
em En
| MEDLINE
| ID: mdl-36396431
ABSTRACT
Haploinsufficiency of the methyl-CpG-binding domain protein 5 (MBD5) gene causes a neurodevelopmental disorder that includes intellectual disability, developmental delay, speech impairment, seizures, sleep disturbances, and behavioral difficulties. Microdeletion of 2q23.1 is the most common cause of haploinsufficiency, although MBD5 haploinsufficiency may also cause this genetic disorder. We report a family harboring a heterozygous loss-of-function variant in MBD5 (NM_018328.5c.728delC; p.Pro243Hisfs*26), which includes three affected siblings with varying phenotypic features. Both parents were phenotypically normal but deep coverage sequencing of the parents showed germline mosaicism in the mother.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transtornos do Neurodesenvolvimento
/
Deficiência Intelectual
Limite:
Humans
Idioma:
En
Revista:
Cold Spring Harb Mol Case Stud
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Irlanda