[Identification of AIPL1 gene variants in two Chinese families with Cone-rod dystrophy].
[No authors listed]
摘要
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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基因功能
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原始数据
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文献解读
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