A missense mutation in CRYBA4 associated with congenital cataract and microcornea.
OBJECTIVE
To identify mutations in a Chinese family with congenital cataract and microcornea.


METHODS
Detailed family history and clinical data were recorded. Genomic DNA was extracted from leukocytes of venous blood of the patients and noncarriers in this family along with 100 normal individuals. All six exons of crystallin, beta A4 gene (CRYBA4) were amplified by PCR methods and direct sequencing.


RESULTS
We identified a c.225G>T sequence change that led to an amino acid substitution G64W in the CRYBA4-induced protein in two patients of this family; this nucleotide substitution was not detected in the other individuals.


CONCLUSIONS
A novel missense mutation in CRYBA4 was identified in our study. It expands the mutation spectrum of CRYBA4 and provides useful information to the study of molecular pathogenesis of cataract and microcornea.
Zhou
Guangkai
G
Department of Ophthalmology, Harbin Medical University the 2nd Affiliated Hospital, Harbin, Heilongjiang, China.
Zhou
Nan
N
Hu
Shanshan
S
Zhao
Liming
L
Zhang
Chunmei
C
Qi
Yanhua
Y
D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D001483:Base Sequence; D002386:Cataract / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003315:Cornea / Q000002:abnormalities* / Q000473:pathology; D005124:Eye Abnormalities / Q000235:genetics* / Q000473:pathology; D005260:Female; D005998:Glycine; D006147:Guanine; D006801:Humans; D008297:Male; D008956:Models, Chemical; D008967:Molecular Biology / Q000379:methods; D020125:Mutation, Missense; D010375:Pedigree; D013941:Thymine; D014364:Tryptophan; D055815:Young Adult; D038205:beta-Crystallin A Chain / Q000737:chemistry / Q000235:genetics*
C103907:CRYBA4 protein, human; D038205:beta-Crystallin A Chain; D006147:Guanine; D014364:Tryptophan; D013941:Thymine; D005998:Glycine