Cerebro-oculo-facio-skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2.
Abnormalities, Multiple
/ genetics
Amino Acid Substitution
Cockayne Syndrome
/ genetics
Consanguinity
Cryptorchidism
/ genetics
Cytomegalovirus Infections
/ complications
Developmental Disabilities
/ genetics
Disease Susceptibility
Fatal Outcome
Homozygote
Humans
Infant, Newborn
Liver Cirrhosis
/ genetics
Male
Mutation, Missense
Point Mutation
Psychomotor Disorders
/ genetics
Syndrome
Xeroderma Pigmentosum Group D Protein
/ deficiency
COFS
DNA damage repair
ERCC2
XPD
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
03 2021
03 2021
Historique:
received:
02
07
2020
revised:
09
12
2020
accepted:
12
12
2020
pubmed:
29
12
2020
medline:
20
7
2021
entrez:
28
12
2020
Statut:
ppublish
Résumé
DNA damage repair is a pivotal mechanism in life. The nucleotide excision repair pathway protects the cells against DNA damage and involves XPD, an ATP dependent helicase that is part of the multisubunit protein complex TFIIH. XPD is encoded by the excision repair cross-complementation group 2 gene (ERCC2). Only three patients with cerebro-oculo-facio-skeletal syndrome (COFS), caused by mutations in ERCC2, have been published so far. This report describes a boy with the homozygous amino acid change p.Gly47Arg in XPD. He presented with profound microcephaly, psychomotor retardation, failure to thrive, cutaneous photosensitivity, a bilateral hearing deficit and optic atrophy, thrombocytopenia, and recurrent episodes of pneumonia. We report the first homozygous occurrence of the pathogenic variant Gly47Arg in the ERCC2 gene. Occurring homozygous, this variant was associated with COFS syndrome, leading to early death of the patient at the age of 21 months.
Identifiants
pubmed: 33369099
doi: 10.1002/ajmg.a.62048
doi:
Substances chimiques
Xeroderma Pigmentosum Group D Protein
EC 3.6.4.12
ERCC2 protein, human
EC 5.99.-
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
930-936Informations de copyright
© 2020 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
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