title: A CRYGC gene mutation associated with autosomal dominant pulverulent cataract.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors: Departamento de Genética, Hospital General de México, Facultad de Medicina, Universidad Nacional Autónoma de México, D.F. México, Mexico.
authors: Luz Ma
authors: LM
authors: González-Huerta
authors: Olga
authors: O
authors: Messina-Baas
authors: Héctor
authors: H
authors: Urueta
authors: Jaime
authors: J
authors: Toral-López
authors: Sergio A
authors: SA
authors: Cuevas-Covarrubias
mesh_terms: D000293:Adolescent; D001120:Arginine / Q000378:metabolism; D016022:Case-Control Studies; D002386:Cataract / Q000151:congenital* / Q000235:genetics*; D005091:Exons; D005260:Female; D005799:Genes, Dominant; D006639:Histidine / Q000378:metabolism; D006801:Humans; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011487:Protein Conformation; D017422:Sequence Analysis, DNA; D055815:Young Adult; D038222:gamma-Crystallins / Q000235:genetics* / Q000378:metabolism
chemical_list: C522806:Crygc protein, human; D038222:gamma-Crystallins; D006639:Histidine; D001120:Arginine
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)