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An additional patient with a homozygous mutation in DCPS contributes to the delination of Al‐Raqad syndrome
Author(s) -
Alesi Viola,
Capolino Rossella,
Genovese Silvia,
Capriati Teresa,
Loddo Sara,
Calvieri Giusy,
Calacci Chiara,
Diociaiuti Andrea,
Diamanti Antonella,
Novelli Antonio,
Dallapiccola Bruno
Publication year - 2018
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.40488
Subject(s) - missense mutation , phenotype , mutation , gene , craniofacial , genetics , biology , microbiology and biotechnology
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.