Identification of AIPL1 gene variants in two Chinese families with Cone-rod dystrophy
10.3760/cma.j.issn.1003-9406.2019.11.006
- VernacularTitle: 两个视锥-视杆细胞营养不良家系的AIPL1基因变异分析
- Author:
Liming WANG
1
;
Peng HAO
;
Ming YING
;
Ruifang HAN
;
Yuchuan WANG
;
Juan GAO
;
Xiaoyong YUAN
;
Xuan LI
Author Information
1. Tianjin Eye Hospital, Tianjin Eye Institute, Tianjin Key Laboratory of Ophthalmology and Vision Science, The Ophthalmic College of Tianjin Medical University, Nankai University Affiliated Eye Hospital, Tianjin 300020, China
- Publication Type:Journal Article
- Keywords:
Cone-rod dystrophy;
AIPL1 gene;
Gene variant;
Whole-exome sequencing
- From:
Chinese Journal of Medical Genetics
2019;36(11):1081-1084
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To detect pathogenic gene variants in two Chinese families with cone-rod dystrophy(CORD).
Methods:After the informed consent and comprehensive ophthalmic examinations for the patients, 3 mL peripheral blood was taken from the patients’ blood vessel and DNA was extracted. The DNA was sequenced by whole-exome sequencing technology and variants were analyzed.
Results:Two novel compound heterozygous AIPL1 variants were detected in two patients, which were c. 923T>C(p.L308P) and c. 421C>T(p.Q141X) variants in Family 1, c. 572T>C(p.L191P) and c. 421C>T(p.Q141X) in Family 2 .
Conclusion:The results supported that AIPL1 gene variants are the main cause of the two CORD families. Whole-exome sequencing technology is a useful tool in the clinical differentiated diagnosis and genetic counseling for CORD patients.
