Whole-exome sequencing identified a novel mutation of MLH1 in an extended family with lynch syndrome

Hamid Ghaedi; Samira Molaei Ramsheh; Maryam Erfanian Omidvar; Afsaneh Labbaf; Elham Alehabib; Sanaz Akbari; Fatemeh Pourfatemi; Hossein Darvish

doi:10.1016/j.gendis.2019.07.011

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Whole-exome sequencing identified a novel mutation of MLH1 in an extended family with lynch syndrome

Short communication | 更新时间：2022-06-24

- Whole-exome sequencing identified a novel mutation of MLH1 in an extended family with lynch syndrome
- Whole-exome sequencing identified a novel mutation of MLH1 in an extended family with lynch syndrome
- Genes & Diseases 2020年7卷第4期
- 作者机构：
  
  1. Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran,Iran
  2. Department of Medical Laboratory Technology, School of Allied Medical Sciences, Shahid Beheshti University of Medical Sciences, Tehran,Iran
  3. Student Research Committee, Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran,Iran
  4. Nourdanesh Institute, Meymeh, Isfahan,Iran
  5. Deputy for Prevention Affairs of State Welfare Organization of Mazandaran, Sari,Iran
  6. Cancer Research Center, Semnan University of Medical Sciences, Semnan,Iran
  7. Department of Medical Genetics, School of Medicine, Semnan University of Medical Sciences, Semnan,Iran
- 作者简介：
- 基金信息：
- DOI：10.1016/j.gendis.2019.07.011
  中图分类号：
- 纸质出版日期：2020，
  
  网络出版日期：2020-12-1，
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Hamid Ghaedi, Samira Molaei Ramsheh, Maryam Erfanian Omidvar, 等. Whole-exome sequencing identified a novel mutation of MLH1 in an extended family with lynch syndrome[J]. Genes & Diseases, 2020,7(4).

Hamid Ghaedi, Samira Molaei Ramsheh, Maryam Erfanian Omidvar, et al. Whole-exome sequencing identified a novel mutation of MLH1 in an extended family with lynch syndrome[J]. Genes & Diseases, 2020,7(4).
Hamid Ghaedi, Samira Molaei Ramsheh, Maryam Erfanian Omidvar, 等. Whole-exome sequencing identified a novel mutation of MLH1 in an extended family with lynch syndrome[J]. Genes & Diseases, 2020,7(4). DOI： 10.1016/j.gendis.2019.07.011.

Hamid Ghaedi, Samira Molaei Ramsheh, Maryam Erfanian Omidvar, et al. Whole-exome sequencing identified a novel mutation of MLH1 in an extended family with lynch syndrome[J]. Genes & Diseases, 2020,7(4). DOI： 10.1016/j.gendis.2019.07.011.

摘要

Abstract

Hereditary nonpolyposis colorectal cancer or Lynch syndrome is autosomal dominant cancer predisposition syndrome characterized by early onset of colorectal cancer and neoplasia in other organs. This condition typically caused by germline mutations in the mismatch repair genes

MLH1

MSH2

MSH6

and

PMS2

. To date

a considerable number of

MLH1

gene mutations have been found to be associated with Lynch syndrome. We were aimed at identifying a genetic mutation in an extended Iranian family affected by Lynch syndrome-related cancers. Here

we applied whole-exome sequencing to identifying mutation in the proband. Furthermore

we applied Sanger sequencing to validate the candidate variant. We found a heterozygous novel single nucleotide deletion (c.206delG) in the exon two of the

MLH1

gene in the proband. Also

Sanger sequencing analysis showed that this mutation has segregated in all affected family members. The mutation (c.206delG:p.R69fs) may create a premature stop codon followed by the formation of a truncated (p.R69fs) Mlh1 protein. Our findings expand the mutational spectra of

MLH1

gene related Lynch syndrome which is vital for screening and genetic diagnosis of the disease.

关键词

Keywords

Colorectal cancerLung cancerMismatch repairMLH1

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