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[Identification of AIPL1 gene variants in two Chinese families with Cone-rod dystrophy]
Liming Wang1, Peng Hao, Ming Ying
1Tianjin 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. xuanli08@yahoo.com.
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 to C (p.L308P) and c.421C to T (p.Q141X) variants in Family 1, c.572T to C (p.L191P) and c.421C to 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.
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