Article
Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype.
European journal of medical genetics - 1 Nov 2021
Santos-Simarro Fernando, Pacio Marta, Cueto-González Anna María, Mansilla Elena, Valenzuela-Palafoll María Irene, López-Grondona Fermina, Lledín María Dolores, Schuffelmann Cristina, Del Pozo Ángela, Solis Mario, Vallcorba Patricia, Lapunzina Pablo, Menéndez Suso Juan José, Siccha Sofia M, Montejo Juan Manuel, Mena Rocío, Jiménez-Rodríguez Carmen, García-Miñaúr Sixto, Palomares-Bralo María
Abstract excerpt
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...
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