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Article

Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum.

Clinical genetics - 1 Apr 2023

Langeh Nitika, Saluja Sumedha, Ethayathulla Abdul Samath, Jana Manisha, Shukla Rashmi, Palanichamy Jayanth Kumar, Gupta Neerja

Abstract excerpt

Mosaic variegated aneuploidy syndrome 2 (MVA2) (MIM# 614114) is a rare autosomal recessive condition caused by biallelic loss of function variants in the CEP57 gene. MVA2 is characterized by a variable phenotype ranging from poor growth to facial dysmorphism, short stature and congenital heart defects. Only 11 families and 5 pathogenic variants of MVA2 have been described so far. Intragenic duplication of 11...

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PMID: 36635612
DOI: 10.1111/cge.14297

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