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Article

Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56∗) CRYGD variant in a family with dominantly inherited congenital cataracts.

Molecular biology reports - 1 Dec 2017

Dudakova Lubica, Stranecky Viktor, Ulmanova Olga, Hlavova Eva, Trková Marie, Vincent Andrea L, Liskova Petra

Abstract excerpt

A bilaterally blind woman, with a three generation family history of autosomal dominant congenital cataracts, variably associated with iris colobomata and microcornea, sought preconception genetic consultation. Whole-exome sequencing was performed in three affected family members, one unaffected first degree relative, and one spouse. The sequence variant c.168C>G; p.(Tyr56∗) in CRYGD, previously reported as...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28849415
DOI: 10.1007/s11033-017-4121-4

Genes

CRYGD
MAF

Variants

Provenance

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