A novel splice site mutation ofCRYBA3/A1gene associated with congenital cataract in a Chinese family.
OBJECTIVE
To identify the disease-causing mutation responsible for the presence of congenital cataract in a Chinese family.


METHODS
The study recruited a four-generation Chinese pedigree affected by autosomal dominant congenital cataract (ADCC). Family history and the history of cataract extraction were recorded. Blood samples were collected from individuals for DNA extraction. Direct sequencing of congenital cataract-associated genes was performed. Single-strand conformational polymorphism and bioinformatic analysis were conducted to further study the mutation.


RESULTS
Direct sequencing revealed a novel splice site mutation of c.30-2 A>G in theCRYBA3/A1gene. The mutation co-segregated within all affected individuals in the family and was not found in unaffected members or 100 unrelated normal controls. These results were further confirmed by single-strand conformational polymorphism and bioinformatic analysis using the Human Splicing Finder and MaxEnt online software and Annovar computer software.


CONCLUSIONS
c.30-2 A>G mutation ofCRYBA3/A1gene is a novel mutation and broadens the genetic spectrum of ADCC.
Department of Eye Center, the Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310009, Zhejiang Province, China; Zhejiang Provincial Key Lab of Ophthalmology, Hangzhou 310009, Zhejiang Province, China.
Meng-Han
MH
Wu
Department of Eye Center, the Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310009, Zhejiang Province, China; Zhejiang Provincial Key Lab of Ophthalmology, Hangzhou 310009, Zhejiang Province, China.
Yin-Hui
YH
Yu
Institute of Translational, Medicine Zhejiang University, Hangzhou 310029, Zhejiang Province, China.
Qin-Long
QL
Hao
School of Optometry and Vision Science Program, University of California, Berkeley 94710, California, USA.
Xiao-Hua
XH
Gong
Department of Eye Center, the Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310009, Zhejiang Province, China; Zhejiang Provincial Key Lab of Ophthalmology, Hangzhou 310009, Zhejiang Province, China.
Ke
K
Yao
CRYBA3/A1 gene; congenital cataract; splice site mutation