Abstract
Ehlers-Danlos syndrome type IV is an autosomal dominant connective tissue disease. Mutations in COL3A1 have been identified to underlie this disease; however, to the best of our knowledge, no COL3A1 mutations have been reported in Ehlers-Danlos syndrome type IV patients with an ascending aortic aneurysm. In order to develop further understanding of COL3A1 mutations, an Ehlers-Danlos syndrome type IV patient diagnosed with an ascending aortic aneurysm and a familial history of sudden mortality was analyzed. Genomic DNA was isolated from the peripheral blood of the patient and his family members. All coding exons of eight aneurysm-related genes (FBN1, TGFBR1, TGFBR 2, MYH11, ACTA2, SLC2A10, NOTCH1 and COL3A1) were amplified using polymerase chain reaction (PCR). The PCR products were sequenced with the ABI 3100 Genetic Analyzer, and a mutation was predicted and identified using Polyphen-2, SIFT and Mutation Taster. The novel mutation was identified as c.2950G>A in COL3A1, which results in p.G984R. All three programs predicted this mutation to be deleterous to the protein function. The novel mutation identified in this study is potentially responsible for Ehlers-Danlos syndrome type IV in this patient, and expands the spectrum of ...Continue Reading
References
Jun 1, 1992·Human Genetics·A J RichardsF M Pope
Nov 1, 1990·The Journal of Clinical Investigation·S KontusaariD J Prockop
Jun 1, 1993·The Journal of Clinical Investigation·G TrompW M Abbott
Apr 29, 1998·American Journal of Medical Genetics·P BeightonR J Wenstrup
Mar 9, 2000·The New England Journal of Medicine·M PepinP H Byers
Apr 27, 2000·Trends in Genetics : TIG·S SunyaevP Bork
Jul 20, 2002·Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society·Hideki ChumanJohn P Deveikis
Apr 16, 2003·Clinical Genetics·H Y KroesA J van Essen
Jun 6, 2003·Clinical Genetics·S PalmeriA Renieri
Jun 26, 2003·Nucleic Acids Research·Pauline C Ng, Steven Henikoff
Jul 21, 2007·Orphanet Journal of Rare Diseases·Dominique P Germain
Jul 22, 2008·The Annals of Thoracic Surgery·Roland HetzerVladimir Alexi-Meskishvili
Feb 11, 2010·Clinical and Investigative Medicine. Médecine Clinique Et Experimentale·JinLan ChenZhiPing Tan
Aug 3, 2010·Nature Methods·Jana Marie SchwarzDominik Seelow
Sep 17, 2011·Clinical Genetics·Z-P TanY-F Yang
Oct 18, 2011·Human Genetics·Haruya SakaiNaomichi Matsumoto
Oct 25, 2011·Journal of Dermatological Science·Bruno DreraMarina Colombi
Oct 12, 2012·Surgery Today·Young Jo SaChang Seok Ki
Nov 13, 2012·Molecular and Cellular Probes·Ushanthine KathiravelStephan Waldmüller
Feb 5, 2013·Journal of Medical Case Reports·Fumihiro KashizakiHiroaki Okamoto
Mar 16, 2013·Experimental Dermatology·Johanna EderFranz Trautinger
May 7, 2013·The Journal of Biological Chemistry·Kazunori MizunoHans Peter Bächinger