Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype.
Eur J Med Genet
; 64(11): 104338, 2021 Nov.
Article
em En
| MEDLINE
| ID: mdl-34500087
ABSTRACT
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.
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Fenótipo
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Proteínas Nucleares
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Transtornos Cromossômicos
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Proteínas Associadas aos Microtúbulos
Limite:
Child
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Humans
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Male
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article