Phenotypic spectrum associated with de novo mutations in QRICH1 gene.
Clin Genet
; 93(2): 286-292, 2018 02.
Article
em En
| MEDLINE
| ID: mdl-28692176
ABSTRACT
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.
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MEDLINE
Assunto principal:
Transtorno Autístico
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Deficiências do Desenvolvimento
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Sequenciamento de Nucleotídeos em Larga Escala
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Proteínas dos Microtúbulos
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article