Purpose: To describe at molecular level a family with pulverulent congenital cataract associated with a CRYGC gene mutation.
Methods: One family with several affected members with pulverulent congenital cataract and 230 healthy controls were examined. Genomic DNA from leukocytes was isolated to analyze the CRYGA-D cluster, CX46, CX50 and MIP genes through high-resolution melting curve and DNA sequencing.
Results: DNA sequencing in the affected members revealed the c.143G>A mutation (p.R48H) in exon 2 of the CRYGC gene; 230 healthy controls and ten healthy relatives were also analyzed and none of them showed the c.143G>A mutation. No other polymorphisms or mutations were found to be present.
Conclusion: In the present study, we described a family with pulverulent congenital cataract that segregated the c.143G>A mutation (p.R48H) in the CRYGC gene. A few mutations have been described in the CRYGC gene in autosomal dominant cataract, none of them with pulverulent cataract making clear the clinical heterogeneity of congenital cataract. This mutation has been associated with the phenotype of congenital cataract but also is considered an SNP in the NCBI data base. Our data and previous report suggest that p.R48H could be a disease-causing mutation and not an SNP.
Keywords: A; Arg; C; CRYAA; CRYBA1; CRYBB1; CRYBB2; CRYGC; CRYGC gene; CRYGD; CX46; CX50; Clinical heterogeneity; Cys; DNA; G; Gamma-crystallins; Gln; Glu; H; His; LE; MIP; P; PCR; Pulverulent congenital cataract; R; RE; T; Tyr; W; adenine; arginine; connexin 46 (CX46); connexin 50 (CX50); cysteine; deoxyribonucleic acid; glutamic acid; glutamine; glycine; guanine; histidine; left eye; major intrinsic protein (MIP); polymerase chain reaction; proline; right eye; threonine; tryptophan; tyrosine; αA-crystallin (CRYAA); βA1-crystallin (CRYBA1); βB1-crystallin (CRYBB1); βB2-crystallin (CRYBB2); γC-crystallin (CRYGC); γD-crystallin (CRYGD).
© 2013 Elsevier B.V. All rights reserved.