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Article

Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome.

European journal of medical genetics - 1 Nov 2020

Dery Tania, Chatron Nicolas, Alqahtani Amerh, Pugeat Michel, Till Marianne, Edery Patrick, Sanlaville Damien, Schluth-Bolard Caroline, Nicolino Marc, Lesca Gaetan, Putoux Audrey

Abstract excerpt

Mosaic Variegated Aneuploidy Syndrome (MVA) is a rare autosomal recessive disorder characterized by mosaic aneuploidies involving multiple chromosomes and tissues. Affected individuals typically present with severe intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, developmental delay and predisposition to cancer and epilepsy. Three genes, BUB1B, CEP57 and TRIP13, are involved in...

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PMID: 32861809
DOI: 10.1016/j.ejmg.2020.104044

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