A novel PAX6 deletion in a Chinese family with congenital aniridia.
Aniridia is a rare, congenital ocular disorder with the characteristics of incomplete formation of the iris caused by the mutations of the paired box gene-6 (PAX6). To investigate the clinical characterization and the underlying genetic defect in a Chinese family with autosomal dominant aniridia, we recruited the family members who underwent comprehensive ophthalmic examination. A novel heterozygous PAX6 deletion mutation c.796 del G (p.A266 fs) (GenBank ID: KP255960) in exon 10 was exclusively observed in all affected individuals but not in any of the unaffected family members or unrelated controls. The PAX6 mRNA level was about 50% lower in patients with aniridia than in unaffected family members, indicating that this mutation caused nonsense-mediated mRNA decay. In conclusion, we identified a novel deletion mutation in the PAX6 gene resulting in an abnormal PAX6 COOH-terminal extension in the Chinese family with aniridia. Our study further expands the mutation spectrum of PAX6.
State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
Qiong
Q
Liu
The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Wencui
W
Wan
State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
Yaning
Y
Liu
The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Yuying
Y
Liu
State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
Zhengmao
Z
Hu
State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
Hui
H
Guo
State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China; College of Life Science and Technology, Xinjiang University, Urumqi, Xinjiang, China; Key Laboratory of Medical Information Research, Central South University, Changsha, Hunan, China. Electronic address: xiakun@sklmg.edu.cn.
Kun
K
Xia
The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China. Electronic address: 2740913223@qq.com.
Xueming
X
Jin
D000328:Adult; D015783:Aniridia / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002675:Child, Preschool; D005136:Eye Proteins / Q000235:genetics* / Q000378:metabolism; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D008875:Middle Aged; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D020871:RNA Stability / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics* / Q000378:metabolism; D017384:Sequence Deletion
D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins
Aniridia; Frameshift mutation; PAX6