Heterozygous Ile453Val codon mutation in exon 7, homozygous single nucleotide polymorphisms in intron 2 and 5 of cathepsin C are associated with Haim-Munk syndrome

• Published in: European journal of dentistry Vol. 8; no. 1; pp. 079 - 084
• Main Authors: Aswath, Nalini, Swamikannu, Bhuminathan, Ramakrishnan, Sankar Narayanan, Shanmugam, Rajendran, Thomas, Jayakar, Ramanathan, Arvind
• Format: Journal Article
• Language: English
• Published: A-12, Second Floor, Sector -2, NOIDA -201301, India Thieme Medical and Scientific Publishers Private Ltd 01.01.2014; Medknow Publications and Media Pvt. Ltd; Medknow Publications & Media Pvt Ltd
• Subjects: Cathepsins; Codon; Gene mutations; Genetic aspects; Health aspects; Introns; Original; Original Article; Papillon-Lefevre disease; Physiological aspects; Single nucleotide polymorphisms; India; mutation; Hain-Munk syndrome in India; Hain-Munk syndrome; single nucleotide polymorphism in Hain-Munk syndrome; Cathepsin C mutation
• ISSN: 1305-7456; 1305-7464
• DOI: 10.4103/1305-7456.126250

ABSTRACT Objective: In the present study, we have investigated the genetic status of CTSC gene in a HMS subject, who along with her parents belonged to non-Jewish South Indian Dravidian community. Materials and Methods: Genomic deoxyribonucleic acid isolated from the peripheral blood of the subject was amplified with CTSC exon specific primers and were analyzed by direct sequencing. Results: Sequencing analysis identified Ile453Val mutation within exon 7 of CTSC gene in heterozygous condition, and two single nucleotide polymorphisms (SNPs) within intron 2 and 5 in homozygous condition. Conclusion: The present study has identified for the first time the association of Ile453Val mutation within exon 7 and the two SNPs in a subject with HMS.