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.
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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors: Department of Oral Medicine and Radiology, Sree Balaji Dental College and Hospital, Bharath University, Chennai, Tamil Nadu, India.
authors: Nalini
authors: N
authors: Aswath
authors: Department of Prosthodontics, Sree Balaji Dental College and Hospital, Bharath University, Chennai, Tamil Nadu, India.
authors: Bhuminathan
authors: B
authors: Swamikannu
authors: Department of Oral Medicine and Radiology, Sree Balaji Dental College and Hospital, Bharath University, Chennai, Tamil Nadu, India.
authors: Sankar Narayanan
authors: SN
authors: Ramakrishnan
authors: Department of Medicine, Sree Balaji Medical College and Hospital, Bharath University, Chennai, Tamil Nadu, India.
authors: Rajendran
authors: R
authors: Shanmugam
authors: Department of Dermatology, Sree Balaji Medical College and Hospital, Bharath University, Chennai, Tamil Nadu, India.
authors: Jayakar
authors: J
authors: Thomas
authors: Human Genetics Laboratory, Central Research Facility, Sree Balaji Medical and Dental College and Hospital, Bharath University, Chennai, Tamil Nadu, India.
authors: Arvind
authors: A
authors: Ramanathan
keywords: Cathepsin C mutation; Hain-Munk syndrome; Hain-Munk syndrome in India; single nucleotide polymorphism in Hain-Munk syndrome