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《West China Journal of Stomatology》 2016-04
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Gene mutational analyses of the cathepsin C gene in families with Papillon-Lefèvre syndrome

Chen Yuanjiao;Li Chen-jun;Dept. of Stomatology,Chengdu Military General Hospital;  
Objective This study aims to investigate the gene mutational characteristics of cathepsin C(CTSC) gene in a Chinese patient with Papillon-Lefèvre syndrome(PLS), then further confirm the genetic basis for the phenotype of PLS, and obtain genetic information that can be used as guide in the diagnosis and treatment of PLS. Methods With their consent, peripheral blood samples were obtained from the proband and his family members(his parents and older sister) for genomic DNA extraction. The coding region and exon/intron boundaries of the CTSC gene were amplified and sequenced using polymerase chain reaction and direct sequencing of DNA. Results Compound heterozygous mutations of CTSC gene were identified in the patient. The proband carries one heterozygous nonsense mutation c.754CT in exon 5 and one heterozygous missense mutation c.1040AG in exon 7. Both parents were heterozygous carriers without the clinical symptoms of PLS. None of the mutations were detected in the proband's sister. Conclusion The study proves that mutations of CTSC gene are responsible for the phenotype of Papillon-Lefèvre syndrome.
【CateGory Index】: R781.4
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【Citations】
Chinese Journal Full-text Database 1 Hits
1 LI Song, TU Ping, ZHU Xue-jun (Department of Dermatology, the First Hospital, Peking University, Beijing 100034, China);A case of Papillon-Lefèvre syndrome with fissured tongue[J];临床皮肤科杂志;2006-02
【Co-citations】
Chinese Journal Full-text Database 2 Hits
1 Chen Yuanjiao;Li Chen-jun;Dept. of Stomatology,Chengdu Military General Hospital;;Gene mutational analyses of the cathepsin C gene in families with Papillon-Lefèvre syndrome[J];华西口腔医学杂志;2016-04
2 CHEN Yuan-jiao,LIU Min-chuan,DING Yi(State Key Laboratory of Oral Diseases,Sichuan University,Chengdu 610041,China);Papillon-Lefèvre syndrome[J];牙体牙髓牙周病学杂志;2011-03
【Secondary Citations】
Chinese Journal Full-text Database 1 Hits
1 Yang Qinping,Fang Li (Department of Dermatology, Hua Shan Hospital, Shanghai Medical University, 200040);Papillon Lefevre syndrome:report of two cases[J];临床皮肤科杂志;1998-05
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