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Phenotypic spectrum associated with de novo mutations in QRICH1 gene
Author(s) -
Ververi A.,
Splitt M.,
Dean J. C. S.,
Brady A. F.
Publication year - 2018
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.13096
Subject(s) - phenotype , genetics , exome sequencing , biology , gene , loss function , mutation
Rare de novo mutations represent a significant cause of idiopathic developmental delay (DD). The use of next‐generation sequencing ( NGS ) has boosted the identification of de novo mutations in an increasing number of novel genes. Here we present 3 unrelated children with de novo loss‐of‐function ( LoF ) mutations in QRICH1 , diagnosed through trio‐based exome sequencing. QRICH1 encodes the glutamine‐rich protein 1, which contains 1 caspase activation recruitment domain and is likely to be involved in apoptosis and inflammation. All 3 children had speech delay, learning difficulties, a prominent nose and a thin upper lip. In addition, 2 of them had mildly raised creatine kinase ( CK ) and 1 of them had autism. Despite their small number, the patients had a relatively consistent pattern of clinical features suggesting the presence of a QRICH1 ‐associated phenotype. LoF mutations in QRICH1 are suggested as a novel cause of DD.