Mutation of CRYGD gene in a family with a special crystalline autosomal dominant congenital cataract

[Abstract]

Objective To observe the molecular characteristics of a Chinese pedigree with a special crystalline autosomal dominant congenital cataract（ADCC） in Shanxi province．

Methods Twenty-two family members of the pedigree agreed to participate in the study．The family members underwent ophthalmologic and general examinations to rule out any concomitant disorders．Blood samples were taken from the twenty-two family members．CRYGC and CRYGD gene were amplified and screened for mutations on both strands using direct sequencing．

Results Sequencing of the coding region of CRYGD showed the presence of a known missense mutation c.C70A(p.P23T)．

Conclusion A missense mutation P23T of the CRYGD gene caused the autosomal dominant congenital nuclear cataract with the special phenotype．

[Key words] congenital cataract；mutation；CRYGD