Identification of a mutL‑homolog 1 mutation via whole‑exome sequencing in a Chinese family with Gardner syndrome

Molecular Medicine Reports
Zilan LvMinglin Ou

Abstract

Gardner syndrome (GS), a variant of familial adenomatous polyposis, is a rare genetic disorder with autosomal dominant inheritance, characterized by the presence of multiple intestinal polyps, multiple osteomas, dental abnormalities and soft tissue tumors. To date, only a few gene mutations have been demonstrated to be responsible for GS. To explore potential unknown mutations responsible for GS, the present study used whole‑exome sequencing of two affected individuals from a family with GS to identify a candidate mutation in mutL‑homolog (MLH)1. The two patients with GS were diagnosed based on a combination of clinical features, family history, physical examinations and cone‑beam computed tomographic imaging. Through whole‑genome sequencing, the present study subsequently identified a missense mutation in MLH1 (NM_000249.3:p.Tyr379Ser/c.1136A>C), which was further confirmed by Sanger sequencing. Furthermore, the amino acid residue p.Tyr379 was identified to be highly conserved among different species through sequence alignment with ClustalW2. In conclusion, the results identified for the first time a MLH1 missense mutation (NM_000249.3:​p.Tyr379Ser/c.1136A>C) in a Chinese family with GS, thus broadening the range of mutated ge...Continue Reading

References

Jun 26, 2003·Nucleic Acids Research·Pauline C Ng, Steven Henikoff
Mar 17, 2005·Frontiers in Bioscience : a Journal and Virtual Library·Aruna S JaiswalSatya Narayan
Sep 9, 2005·World Journal of Gastroenterology : WJG·C FotiadisG-C Zografos
Apr 24, 2007·Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics·Luca RamagliaAnnamaria Colao
May 20, 2009·Bioinformatics·Heng Li, Richard Durbin
Jan 19, 2010·Bioinformatics·Heng Li, Richard Durbin
Feb 10, 2010·American Journal of Clinical Dermatology·Edward Juhn, Amor Khachemoune
Dec 18, 2010·Annals of Dermatology·Jimin ChungMyung Hwa Kim
Sep 29, 2011·Nature Reviews. Genetics·Michael J BamshadJay Shendure
Jan 19, 2012·International Journal of Medical Sciences·Abdulkadir Burak CankayaCuneyt Korhan Oral
Jun 29, 2012·Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology·Alan S HerfordRahul Tandon
Oct 4, 2013·The New England Journal of Medicine·Yaping YangChristine M Eng
Oct 15, 2013·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Ophir D KleinRenata Peterkova
Jan 25, 2014·Molecular Cancer·Inga HinrichsenAngela Brieger
Jan 1, 2016·DNA Repair·Lyudmila Y Kadyrova, Farid A Kadyrov
Jan 28, 2017·Hereditary Cancer in Clinical Practice·Marcia Cruz-CorreaUNKNOWN Puerto Rico Clinical Cancer Genetics Consortia

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Adenomatous Polyposis Coli

Adenomatous polyposis coli is a protein encoded by the APC gene and acts as a tumor suppressor. Discover the latest research on adenomatous polyposis coli here.

Related Papers

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
Maria Giulia CristofaroMario Giudice
The Journal of Craniofacial Surgery
Carolina Amália Barcellos SilvaVera Cavalcanti de Araújo
Revista de gastroenterología del Perú : órgano oficial de la Sociedad de Gastroenterología del Perú
Luis Vásquez EleraAlejandro Bussalleu
© 2022 Meta ULC. All rights reserved