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

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...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2018-12, Vol.176 (12), p.2781-2786
Main Authors: Alesi, Viola, Capolino, Rossella, Genovese, Silvia, Capriati, Teresa, Loddo, Sara, Calvieri, Giusy, Calacci, Chiara, Diociaiuti, Andrea, Diamanti, Antonella, Novelli, Antonio, Dallapiccola, Bruno
Format: Article
Language:English
Subjects:
11q24.2
Al‐Raqad syndrome
CMA
DCPS
Gene expression
Gene regulation
genomic microarray
Growth rate
Missense mutation
Mutation
Skin
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Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.40488