Gene mutational analyses of cathepsin C gene in a family with Papillon-Lefèvre syndrome

doi:10.7518/hxkq.2019.01.006

Abstract

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. Conclusion Mutations of CTSC gene are responsible for the phenotype of PLS.

Key words: Papillon-Lefèvre syndrome;, cathepsin C, gene mutation

CLC Number:

R781.4

Tingting Hu,Xiaoyan Zou,Fang Ye. Gene mutational analyses of cathepsin C gene in a family with Papillon-Lefèvre syndrome[J]. West China Journal of Stomatology, 2019, 37(1): 31-36.

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引物名称	引物序列	产物长度/bp
外显子1	F：5’-TCCAGTTGCAGCCAAGTGAG-3’	536
	R：5’-GGTCCCCGAATCCAGTCAA-3’
外显子2	F：5’-CTCAAACTGGGTAGCATGAAAGG-3’	381
	R：5’-GGTGTCAATTCCGGTCATCTTC-3’
外显子3	F：5’-ACCTCTCAGGGTGAAGTTTTTGTT-3’	424
	R：5’-TTTTACATAGCATGCCTAATATTTCT-3’
外显子4	F：5’-ACCACTTTCCACTTAGGCACAGA-3’	343
	R：5’-GGCGAGCAACACTGGTAGGA-3’
外显子5	F：5’-CAGGTGCTCTGGGTCTGAATCTA-3’	352
	R：5’-ATCATGCCCATTCCATCTAGGTAT-3’
外显子6	F：5’-TGTTAGTTGAGTCTTCTTATTGTGCT-3’	415
	R：5’-GCCAGACTTGCACTCAGATTTT-3’
外显子7	1F：5’-TAGAAGGAGGATGAAAGGATAGTTA-3’	699
	1R：5’-CTGGAAGGCATACCCTACAATT-3’
	2F：5’-CTGGGGTGAGAATGGCTACTT-3’	659
	2R：5’-CTCCCTGTCATAAAGGTTCATAGTT-3’