Original Article
Genetic study of a Chinese pedigree affected with pachyonychia congenita
Zhao Feiyue, Xing Biying, Xiao Jifang, Zhao Xiuli
Published 2019-10-10
Cite as Chin J Med Genet, 2019, 36(10): 985-988. DOI: 10.3760/cma.j.issn.1003-9406.2019.10.008
Abstract
ObjectiveTo explore the genetic basis for a Chinese pedigree affected with pachyonychia congenita (PC).
MethodsWith informed consent obtained, peripheral blood samples were taken from the pedigree. Genomic DNA was extracted with a phenol/chloroform method. Based on the clinical manifestation of the patients, candidate genes for PC were selected. Potential mutation was screened by PCR and Sanger sequencing. Suspected mutation was verified in other family members by PCR-high resolution melting (HRM) analysis. Haplotype analysis using microsatellite markers was also carried out to determine the founder of the mutation.
ResultsA heterozygous c. 275A>G (Asn92Ser) mutation was discovered in exon 1 of theKRT17 gene in the proband. PCR-HRM analysis showed that all affected members were heterozygous carriers of the mutation. The same mutation was found in none of the unaffected members. Haplotype analysis and sequencing indicated the mother of the proband to be the founder.
ConclusionThe c. 275A>G (Asn92Ser) mutation of theKRT17 gene probably underlies the disease in this pedigree. Above finding has facilitated genetic counseling and prenatal diagnosis for this pedigree.
Key words:
Pachyonychia congenita; Keratin 17; Genetic mutation; Haplotype analysis; High-resolution melting analysis
Contributor Information
Zhao Feiyue
Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences - School of Basic Medicine, Peking Union Medical College, Beijing 100005, China
Xing Biying
Beijing No. 65 Middle School, Beijing 100006, China
Xiao Jifang
Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences - School of Basic Medicine, Peking Union Medical College, Beijing 100005, China
Zhao Xiuli
Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences - School of Basic Medicine, Peking Union Medical College, Beijing 100005, China
