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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Mutation
RNA Stability
Gene Expression Regulation
Missense Mutation
Skin
Growth
Genes
Proteins

Cite this

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title = "An additional patient with a homozygous mutation in DCPS contributes to the delination of Al-Raqad syndrome",
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.",
author = "Viola Alesi and Rossella Capolino and Silvia Genovesea and Teresa Capriati and Sara Loddo and Giusy Calvieri and Chiara Calacci and Andrea Diociaiuti and Antonella Diamanti and Antonio Novelli and Bruno Dallapiccola",
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T1 - An additional patient with a homozygous mutation in DCPS contributes to the delination of Al-Raqad syndrome

AU - Alesi, Viola

AU - Capolino, Rossella

AU - Genovesea, Silvia

AU - Capriati, Teresa

AU - Loddo, Sara

AU - Calvieri, Giusy

AU - Calacci, Chiara

AU - Diociaiuti, Andrea

AU - Diamanti, Antonella

AU - Novelli, Antonio

AU - Dallapiccola, Bruno

N1 - © 2018 Wiley Periodicals, Inc.

PY - 2018/10/5

Y1 - 2018/10/5

N2 - 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.

AB - 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.

U2 - 10.1002/ajmg.a.40488

DO - 10.1002/ajmg.a.40488

M3 - Article

C2 - 30289615

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

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