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

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 ampli...

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Autores principales: Aswath, Nalini, Swamikannu, Bhuminathan, Ramakrishnan, Sankar Narayanan, Shanmugam, Rajendran, Thomas, Jayakar, Ramanathan, Arvind
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4054037/
https://www.ncbi.nlm.nih.gov/pubmed/24966751
http://dx.doi.org/10.4103/1305-7456.126250
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author Aswath, Nalini
Swamikannu, Bhuminathan
Ramakrishnan, Sankar Narayanan
Shanmugam, Rajendran
Thomas, Jayakar
Ramanathan, Arvind
author_facet Aswath, Nalini
Swamikannu, Bhuminathan
Ramakrishnan, Sankar Narayanan
Shanmugam, Rajendran
Thomas, Jayakar
Ramanathan, Arvind
author_sort Aswath, Nalini
collection PubMed
description 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.
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spelling pubmed-40540372014-06-25 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 Aswath, Nalini Swamikannu, Bhuminathan Ramakrishnan, Sankar Narayanan Shanmugam, Rajendran Thomas, Jayakar Ramanathan, Arvind Eur J Dent Original Article 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. Medknow Publications & Media Pvt Ltd 2014 /pmc/articles/PMC4054037/ /pubmed/24966751 http://dx.doi.org/10.4103/1305-7456.126250 Text en Copyright: © European Journal of Dentistry http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Aswath, Nalini
Swamikannu, Bhuminathan
Ramakrishnan, Sankar Narayanan
Shanmugam, Rajendran
Thomas, Jayakar
Ramanathan, Arvind
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
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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_short 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
title_sort 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
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4054037/
https://www.ncbi.nlm.nih.gov/pubmed/24966751
http://dx.doi.org/10.4103/1305-7456.126250
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