biostudies-literatureUnknown8(1)Aswath N<h4>Objective</h4>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.<h4>Materials and methods</h4>Genomic deoxyribonucleic acid isolated from the peripheral blood of the subject was amplified with CTSC exon specific primers and were analyzed by direct sequencing.<h4>Results</h4>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.<h4>Conclusion</h4>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.European journal of dentistry79-84https://www.ebi.ac.uk/biostudies/studies/S-EPMC4054037biostudies-literatureHeterozygous Ile453Val codon mutation in exon 7, homozygous single nucleotide polymorphisms in intron 2 and 5 of cathepsin C are associated with Haim-Munk syndrome.PMC4054037Ramakrishnan SNRamanathan ASwamikannu BAswath NShanmugam RThomas JfalseHeterozygous Ile453Val codon mutation in exon 7, homozygous single nucleotide polymorphisms in intron 2 and 5 of cathepsin C are associated with Haim-Munk syndrome.<h4>Objective</h4>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.<h4>Materials and methods</h4>Genomic deoxyribonucleic acid isolated from the peripheral blood of the subject was amplified with CTSC exon specific primers and were analyzed by direct sequencing.<h4>Results</h4>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.<h4>Conclusion</h4>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.2014-01-01T00:00:00Z2014 Jan2025-06-01T00:11:41.728Z2025-06-01T00:11:41.728ZS-EPMC40540372496675110.4103/1305-7456.126250