An additional patient with a homozygous mutation in DCPS contributes to the delination of Al-Raqad syndrome

Viola Alesi, Rossella Capolino, Silvia Genovesea, Teresa Capriati, Sara Loddo, Giusy Calvieri, Chiara Calacci, Andrea Diociaiuti, Antonella Diamanti, Antonio Novelli, Bruno Dallapiccola

Research output: Contribution to journalArticle

Abstract

DCPS gene encodes for a protein involved in gene expression regulation through promoting cap degradation during mRNA decapping processes. Mutations altering the DCPS function have been associated to a distinct disorder, Al-Raqad syndrome, so far described only in two families. We report on a patient harboring a novel homozygous missense mutation in DCPS, presenting with growth retardation, craniofacial anomalies, skin dyschromia, and neuromuscular defects. This case study explains the molecular spectrum of DCPS mutations and might contribute to the phenotypic delineation of this rare condition.

Original languageEnglish
JournalAmerican Journal of Medical Genetics, Part A
DOIs
Publication statusE-pub ahead of print - Oct 5 2018

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