Homozygous and compound heterozygous mutations at the Werner syndrome locus

Human Molecular Genetics
J OshimaG M Martin

Abstract

The Werner syndrome (WS) is a rare autosomal recessive progeroid disorder. The Werner syndrome gene (WRN) has recently been identified as a member of the helicase family. Four distinct mutations were previously reported in three Japanese and one Syrian WS pedigrees. The latter mutation was originally described as a 4 bp deletion spanning a spliced junction. It is now shown that this mutation results in a 4 bp deletion at the beginning of an exon. Nine new WRN mutations in 10 additional WS patients, both Japanese and Caucasian, are described. These include three compound heterozygotes (one Japanese and two Caucasian). The new mutations are located all across the coding region.

Citations

Sep 24, 2008·Human Genetics·Meltem MuftuogluVilhelm A Bohr
Nov 14, 1997·Mechanisms of Ageing and Development·T MikiT Ogihara
Jun 1, 2000·Experimental Gerontology·T TsujiM Namba
Feb 10, 1999·Experimental Gerontology·L YeT Miki
Jun 1, 1997·Current Opinion in Genetics & Development·N A Ellis
Sep 1, 1997·Nature Genetics·M D GrayL A Loeb
Apr 16, 2002·Clinical and Experimental Dermatology·T ShimizuH Shimizu
Dec 22, 1999·Nucleic Acids Research·M J MoserR J Monnat
Feb 14, 1998·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·G M Martin
Nov 10, 2001·Annual Review of Genomics and Human Genetics·A J van BrabantN A Ellis
Jun 17, 1998·Proceedings of the National Academy of Sciences of the United States of America·R A MarciniakL Guarente
May 5, 2010·The Journal of Cell Biology·Yasushi EnokidoHitoshi Okazawa
Apr 24, 2009·The Journal of Investigative Dermatology·Brian C CapellSeth J Orlow
Apr 24, 2008·Mechanisms of Ageing and Development·Karen J OuyangNathan A Ellis
May 13, 2005·The British Journal of Dermatology·F B MüllerN Hunzelmann
May 5, 2006·Human Mutation·Shurong HuangJunko Oshima
Jul 24, 2012·Geriatrics & Gerontology International·Minoru TakemotoKoutaro Yokote
Oct 14, 2009·Molecular Carcinogenesis·Jessica J HsuLawrence A Loeb
Jul 31, 1998·Experimental Cell Research·M D GrayJ Oshima
Mar 3, 2015·Frontiers in Genetics·Fumiaki UchiumiYasuhiro Furuichi
Oct 17, 2014·Journal of Virology·Thomas B Lentz, R Jude Samulski
Feb 13, 2001·Genomics·G PassarinoP A Underhill
Nov 20, 2016·Human Mutation·Wenqing FuRaymond J Monnat
Mar 10, 2017·Scientific Reports·Ashwini S Kamath-LoebGabriela E Mercado-Celis
Jul 7, 2007·Circulation Research·Brian C CapellElizabeth G Nabel
Oct 19, 2004·The Journal of Biological Chemistry·Ashwini S Kamath-LoebLawrence A Loeb
Sep 10, 2005·The Journal of Biological Chemistry·Jae Wan LeeVilhelm A Bohr
Dec 16, 1998·The Journal of Biological Chemistry·A S Kamath-LoebM Fry
Apr 9, 2001·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·D ChoiW D Funk
Apr 30, 2002·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Martin PootPeter S Rabinovitch
Apr 29, 1999·Human Mutation·M J MoserR J Monnat
Aug 30, 2020·Clinical Genetics·Franziska SchnabelBernd Wollnik
Dec 16, 1998·The Journal of Biological Chemistry·J C ShenL A Loeb
May 23, 2000·The Journal of Immunology : Official Journal of the American Association of Immunologists·J F BaurainP G Coulie

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