{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["8(1)"],"submitter":["Aswath N"],"pubmed_abstract":["<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."],"journal":["European journal of dentistry"],"pagination":["79-84"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4054037"],"repository":["biostudies-literature"],"pubmed_title":["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."],"pmcid":["PMC4054037"],"pubmed_authors":["Ramakrishnan SN","Ramanathan A","Swamikannu B","Aswath N","Shanmugam R","Thomas J"],"additional_accession":[]},"is_claimable":false,"name":"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.","description":"<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.","dates":{"release":"2014-01-01T00:00:00Z","publication":"2014 Jan","modification":"2025-06-01T00:11:41.728Z","creation":"2025-06-01T00:11:41.728Z"},"accession":"S-EPMC4054037","cross_references":{"pubmed":["24966751"],"doi":["10.4103/1305-7456.126250"]}}