Genetic and prenatal diagnosis of a retinitis pigmentosa pedigree.
- VernacularTitle:一个视网膜色素变性家系的基因诊断和产前诊断
- Author:
Hongfei KANG
1
;
Nan BAI
;
Shiyue MEI
;
Xiangdong KONG
Author Information
- Publication Type:Journal Article
- MeSH: Eye Proteins; genetics; Female; Genetic Diseases, X-Linked; genetics; High-Throughput Nucleotide Sequencing; Humans; Intracellular Signaling Peptides and Proteins; genetics; Male; Membrane Proteins; genetics; Pedigree; Pregnancy; Prenatal Diagnosis; Retinitis Pigmentosa; genetics
- From: Chinese Journal of Medical Genetics 2018;35(2):184-187
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the genetic etiology of a pedigree affected with hereditary retinitis pigmentosa.
METHODSHigh-throughput DNA sequencing was used to analyze the sequences of 173 genes associated with hereditary eye diseases in the proband. Suspected mutation was verified with PCR amplification and Sanger sequencing.
RESULTSThe proband was found to have carried a c.570_571 ins GAAGATGCTGT insertional mutation in the RP2 gene located on the X chromosome. All female carriers of the pedigree were heterozygous, while all affected males were hemizygous for the same mutation.
CONCLUSIONThe inheritance pattern of this retinitis pigmentosa pedigree was X-linked recessive. The c.570_571 ins GAAGATGCTGT insertional mutation of the RP2 gene probably underlies the disease.
