[Gene mutational analyses of the cathepsin C gene in families with Papillon-Lefèvre syndrome].
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 poly-merase chain reaction and direct sequencing of DNA.


RESULTS
Compound heterozygous mutations of CTSC gene were iden-tified in the patient. The proband carries one heterozygous nonsense mutation c.754C>T in exon 5 and one heterozygous missense mutation c.1040A>G 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.


CONCLUSIONS
The study proves that mutations of CTSC gene are responsible for the phenotype of Papillon-Lefèvre syndrome. .
Dept. of Stomatology, Chengdu Military General Hospital, Chengdu 610017, China.
Chen
C
Yuanjiao
Dept. of Stomatology, Chengdu Military General Hospital, Chengdu 610017, China.
Li
L
Chen-Jun
D044466:Asian People; D001483:Base Sequence; D020789:Cathepsin C; D004247:DNA; D004252:DNA Mutational Analysis; D005091:Exons; D006801:Humans; D009154:Mutation; D010214:Papillon-Lefevre Disease; D010641:Phenotype
D004247:DNA; D020789:Cathepsin C
Papillon-Lefèvre syndrome; cathepsin C; gene mutation