Phenotypic spectrum associated with de novo mutations in QRICH1 gene

Abstract

Rare de novo mutations represent a significant cause of idiopathic developmental delay. The use of NGS has boosted the identification of de novo mutations in an increasing number of novel genes. Here we present three unrelated children with de novo LoF mutations in QRICH1, diagnosed through trio exome sequencing. QRICH1 encodes the glutamine-rich protein 1, which contains one Caspase Activation Recruitment Domain and is likely to be involved in apoptosis and inflammation. All three children had speech delay, learning difficulties, a prominent nose and a thin upper lip. In addition, two of them had mildly raised CK and one 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 developmental delay.

Graphical abstract

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