title: MEN1 935-1G>C splicing mutation in an Indian patient with multiple endocrine neoplasia type 1.
abstract: OBJECTIVE
  Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant syndrome characterized mainly by multiple tumors involving parathyroid, pancreatic, and pituitary glands. To date, there have been no genetic studies reported on MEN1 in the Indian population. In order to begin to establish molecular diagnosis to improve the management of MEN1 in India, we performed a molecular analysis of the MEN1 gene in a patient of Indian origin.
  
  
  METHODS
  Molecular analysis of the MEN1 gene was performed to identify mutations in an Indian patient previously diagnosed with sporadic MEN1. All the 10 exons of the MEN1 gene were amplified using the polymerase chain reaction and screened by direct DNA sequencing.
  
  
  RESULTS
  The DNA sequencing results revealed the presence of an intronic, heterozygous, splicing mutation 935-1G>C in intron 5 of the MEN1 gene.
  
  
  CONCLUSIONS
  This study provides the first data on genetic analysis of MEN1 in Indian patients.
authors.affiliation: Research Laboratories, P.D. Hinduja National Hospital and Medical Research Centre, Mumbai, India.
authors.forename: Rani
authors.initials: R
authors.lastname: Raghavan
authors.forename: Sudeep
authors.initials: S
authors.lastname: Shah
authors.forename: Altaf A
authors.initials: AA
authors.lastname: Kondkar
authors.forename: Alpa J
authors.initials: AJ
authors.lastname: Dherai
authors.forename: Devendra
authors.initials: D
authors.lastname: Desai
authors.forename: Phulrenu
authors.initials: P
authors.lastname: Chauhan
authors.forename: Murad
authors.initials: M
authors.lastname: Lala
authors.forename: Tester F
authors.initials: TF
authors.lastname: Ashavaid
mesh_terms: D000236:Adenoma / Q000150:complications / Q000235:genetics; D000328:Adult; D017398:Alternative Splicing / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D015408:Gastrinoma / Q000150:complications / Q000235:genetics; D006801:Humans; D007194:India; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics*; D010190:Pancreatic Neoplasms / Q000150:complications / Q000235:genetics; D010911:Pituitary Neoplasms / Q000150:complications / Q000235:genetics; D017354:Point Mutation; D011518:Proto-Oncogene Proteins / Q000235:genetics*
chemical_list: C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins