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
in Chinese
| WPRIM
| ID: wpr-776742
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 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Carrier Proteins
/
Asian People
/
Eye Proteins
/
Cone-Rod Dystrophies
/
Exome Sequencing
/
Genetics
/
Mutation
Type of study:
Diagnostic study
Limits:
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article
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