Identification of AIPL1 gene variants in two Chinese families with Cone-rod dystrophy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 1081-1084, 2019.
Article
en Zh
| WPRIM
| ID: wpr-800858
Biblioteca responsable:
WPRO
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.
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1
Base de datos:
WPRIM
Tipo de estudio:
Diagnostic_studies
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2019
Tipo del documento:
Article