title: Segregation of a novel MLH1 mutation in an Iranian Lynch syndrome family.
abstract: Lynch syndrome is an autosomal dominant disorder caused by germline mutations in mismatch repair (MMR) genes. The main feature of this disorder is an early onset of hereditary colorectal cancer in addition to other cancers arising from different tissues. Here, we report an Iranian family with several members affected with Lynch syndrome related cancers. Exome sequencing with focus on 14 genes related with hereditary colorectal cancer has shown a novel mutation in exon 19 of MLH1 gene (c.2133delC, p.Trp712Gly fs*71). This mutation is located in a region coding for the functional domain for the interaction with MLH3/PMS1/PMS2. As some clinical aspects of the disorder have been shown to be associated with certain mutations, identification of causative mutation in each family has implications for surveillance protocols.
authors.affiliation: Department of Medical Genetics, Shahid Beheshti University of Medical sciences, Tehran, Iran.
authors.forename: Soudeh
authors.initials: S
authors.lastname: Ghafouri-Fard
authors.affiliation: Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
authors.forename: Majid
authors.initials: M
authors.lastname: Fardaei
authors.affiliation: Health policy Research center, Shiraz University of Medical Sciences, Shiraz, Iran.
authors.forename: Kamran Bagheri
authors.initials: KB
authors.lastname: Lankarani
authors.affiliation: Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Electronic address: miryounesi@gmail.com.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Miryounesi
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics*; D005260:Female; D006801:Humans; D007492:Iran; D008297:Male; D000070957:MutL Protein Homolog 1; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C501486:MLH1 protein, human; D009687:Nuclear Proteins; D000070957:MutL Protein Homolog 1
keywords: Lynch syndrome; MLH1; Mutation