Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype.
CEP57
Cancer predisposition
Cardiovascular malformations
Growth retardation
MVA2
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 2021
Nov 2021
Historique:
received:
06
04
2021
revised:
01
09
2021
accepted:
04
09
2021
pubmed:
10
9
2021
medline:
13
1
2022
entrez:
9
9
2021
Statut:
ppublish
Résumé
Mosaic Variegated Aneuploidy Syndrome 2 (MVA2; MIM 614114) is a rare autosomal recessive disorder, characterized by mosaic aneuploidies involving multiple chromosomes and tissues, caused by biallelic pathogenic variants in the CEP57 gene. Only 10 patients have been reported to date. We report two additional non related cases born to Moroccan consanguineous parents, carrying the previously described c.915_925dup11 CEP57 homozygous variant. Common features of these 12 cases include growth retardation, typically of prenatal onset, distinctive facial features, endocrine, cardiovascular and skeletal, abnormalities while malignancies have not been reported. This report describes the phenotypical spectrum of MVA2.
Identifiants
pubmed: 34500087
pii: S1769-7212(21)00204-4
doi: 10.1016/j.ejmg.2021.104338
pii:
doi:
Substances chimiques
CEP57 protein, human
0
Microtubule-Associated Proteins
0
Nuclear Proteins
0
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
104338Informations de copyright
Copyright © 2021 Elsevier Masson SAS. All rights reserved.