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CC BY-NC-ND 4.0 · Eur J Dent 2014; 08(01): 079-084
DOI: 10.4103/1305-7456.126250
Original Article
Dental Investigation Society

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

Nalini Aswath
1   Department of Oral Medicine and Radiology, Sree Balaji Dental College and Hospital, Bharath University, Chennai, Tamil Nadu, India
,
Bhuminathan Swamikannu
2   Department of Prosthodontics, Sree Balaji Dental College and Hospital, Bharath University, Chennai, Tamil Nadu, India
,
Sankar Narayanan Ramakrishnan
1   Department of Oral Medicine and Radiology, Sree Balaji Dental College and Hospital, Bharath University, Chennai, Tamil Nadu, India
,
Rajendran Shanmugam
3   Department of Medicine, Sree Balaji Medical College and Hospital, Bharath University, Chennai, Tamil Nadu, India
,
Jayakar Thomas
4   Department of Dermatology, Sree Balaji Medical College and Hospital, Bharath University, Chennai, Tamil Nadu, India
,
Arvind Ramanathan
5   Human Genetics Laboratory, Central Research Facility, Sree Balaji Medical and Dental College and Hospital, Bharath University, Chennai, Tamil Nadu, India
› Author Affiliations
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Publication History

Publication Date:
24 September 2019 (online)

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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.

Key words:

Cathepsin C mutation - Hain-Munk syndrome - Hain-Munk syndrome in India - single nucleotide polymorphism in Hain-Munk syndrome
 

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