Gene mutational analyses of cathepsin C gene in a family with Papillon-Lefèvre syndrome.
- VernacularTitle:一个掌跖角化-牙周破坏综合征患者家系组织蛋白酶C基因突变分析
- Author:
Ting-Ting HU
1
;
Xiao-Yan ZOU
1
;
Fang YE
1
Author Information
- Publication Type:Journal Article
- Keywords: Papillon-Lefèvre syndrome; cathepsin C; gene mutation
- MeSH: Cathepsin C; genetics; DNA Mutational Analysis; Exons; Humans; Male; Mutation; Papillon-Lefevre Disease; genetics; Pedigree; Phenotype
- From: West China Journal of Stomatology 2019;37(1):31-36
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:This study aimed to investigate the gene mutational characteristics of cathepsin C (CTSC) gene in a Chinese patient with Papillon-Lefèvre syndrome (PLS) and further confirm the genetic basis for the phenotype of PLS.
METHODS:Peripheral blood samples were obtained from the PLS proband and his family members (his parents and younger brother) for genomic DNA extraction. The coding region and exon boundaries of the CTSC gene were amplified and sequenced by polymerase chain reaction and direct sequencing of DNA.
RESULTS:Compound heterozygous mutations of CTSC gene were identified in the patient. A heterozygous missense mutation occurred in the 800th base of exon 6, and the base T in the base pair was replaced by C (c.800T>C). The encoded amino acid leucine changed to proline (p. L267P). A heterozygous missense mutation occurred in the 1015th base of exon 7, and base C in the base pair was replaced by T (c.1015C>T). The encoded amino acid arginine changed to cysteine (p.R339C). Among the mutations, c.800T>C originated from the mother, c.1015C>T was identified from the father. No mutations were detected in the younger brother.
CONCLUSIONS:Mutations of CTSC gene are responsible for the phenotype of PLS.
