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Eur J Med Genet. 2019 Mar;62(3):195-197. doi: 10.1016/j.ejmg.2018.07.013. Epub 2018 Jul 17.

A homozygous CEP57 c.915_925dupCAATGTTCAGC mutation in a patient with mosaic variegated aneuploidy syndrome with rhizomelic shortening in the upper and lower limbs and a narrow thorax.

Author information

1
Hospital General Naval de Alta Especialidad, Secretaria de Marina, Armada de México, Mexico City, Mexico.
2
BIOGEN Laboratory, Mexico City, Mexico.
3
Inmunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, SS, Mexico City, Mexico.
4
Inmunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, SS, Mexico City, Mexico. Electronic address: amartinez@inmegen.gob.mx.

Abstract

Mosaic variegated aneuploidy syndrome (MVA) is a rare autosomal recessive disorder characterized by random chromosome gains and losses. Mutations in BUB1B and CEP57 genes have been involved in MVA. Here we report on a male child with MVA due to c.915_925dupCAATGTTCAGC mutation in the CEP57 gene. Our patient was homozygous for this mutation and he is the first case with rhizomelic shortening of both the upper and lower limbs and mild respiratory insufficiency due to a narrow thorax. It is also the second MVA Mexican family reported with this mutation that lives in the northwestern region of Mexico, suggesting a "local founding effect". Additional cases are needed to better understand the MVA genotype-phenotype relationship.

KEYWORDS:

Aneuploidies; CEP57; Mosaic variegated aneuploidy; Rhizomelic shortening; c.915_925dupCAATGTTCAGC

PMID:
30010053
DOI:
10.1016/j.ejmg.2018.07.013
[Indexed for MEDLINE]

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