Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly.
Journal
European journal of medical genetics
ISSN: 1878-0849
Titre abrégé: Eur J Med Genet
Pays: Netherlands
ID NLM: 101247089
Informations de publication
Date de publication:
Nov 2020
Nov 2020
Historique:
received:
31
03
2020
revised:
05
06
2020
accepted:
10
07
2020
pubmed:
8
8
2020
medline:
1
5
2021
entrez:
8
8
2020
Statut:
ppublish
Résumé
Interstitial 19q13.11 deletions are associated with ectrodactyly, which has recently been linked to loss-of-function of the UBA2 gene. We report a boy with a de novo frameshift mutation in UBA2 (c.612delA (p.(Glu205Lysfs*63)), presenting with ectrodactyly of the feet associated with learning difficulties and minor physical anomalies. We review genotype-phenotype correlations in patients with chromosomal 19q13.11 microdeletions compared to those with intragenic UBA2 mutations.
Identifiants
pubmed: 32758660
pii: S1769-7212(20)30282-2
doi: 10.1016/j.ejmg.2020.104009
pii:
doi:
Substances chimiques
UBA2 protein, human
0
Ubiquitin-Activating Enzymes
EC 6.2.1.45
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
104009Informations de copyright
Copyright © 2020 Elsevier Masson SAS. All rights reserved.