Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations

Human Genetics
A L DeStefanoL A Farrer

Abstract

Waardenburg syndrome (WS) type 1 is an autosomal dominant disorder characterized by sensorineural hearing loss, pigmentary abnormalities of the eye, hair, and skin, and dystopia canthorum. The phenotype is variable and affected individuals may exhibit only one or a combination of several of the associated features. To assess the relationship between phenotype and gene defect, clinical and genotype data on 48 families (271 WS individuals) collected by members of the Waardenburg Consortium were pooled. Forty-two unique mutations in the PAX3 gene, previously identified in these families, were grouped in five mutation categories: amino acid (AA) substitution in the paired domain, AA substitution in the homeodomain, deletion of the Ser-Thr-Pro-rich region, deletion of the homeodomain and the Ser-Thr-Pro-rich region, and deletion of the entire gene. These mutation classes are based on the structure of the PAX3 gene and were chosen to group mutations predicted to have similar defects in the gene product. Association between mutation class and the presence of hearing loss, eye pigment abnormality, skin hypopigmentation, or white forelock was evaluated using generalized estimating equations, which allowed for incorporation of a correlat...Continue Reading

Citations

Sep 29, 2001·International Journal of Pediatric Otorhinolaryngology·J B Nadol, S N Merchant
Jul 14, 2007·Genetic Testing·J M MilunskyA Milunsky
Oct 9, 2001·Lancet·M TekinA Pandya
Jan 6, 2012·European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery·Hossein MahboubiHamid R Djalilian
Mar 1, 2008·Expert Opinion on Medical Diagnostics·Oana Vele, Iris Schrijver
Sep 24, 2004·British Journal of Haematology·Hanna T GazdaColin A Sieff
Sep 1, 2006·British Journal of Haematology·Hanna T Gazda, Colin A Sieff
Jun 17, 2008·American Journal of Medical Genetics. Part a·Alona GadWendy H Raskind
May 28, 2010·Human Mutation·Cheryl ShoubridgeJozef Gécz
Feb 4, 2010·Human Mutation·Véronique PingaultNadège Bondurand
Sep 8, 2006·The Veterinary Journal·Caroline A GeigyClaude Gaillard
Nov 13, 2012·The Journal of Heredity·Felicity C JacklingBelinda R Appleton
May 19, 2010·Biochemical and Biophysical Research Communications·Hongsheng ChenYong Feng
Jun 1, 2005·Mechanisms of Development·Guojuan ZhangHelen M Chamberlin
Oct 7, 2004·American Journal of Human Genetics·Richard J F L LemmersSilvere M van der Maarel
Sep 18, 2001·The Annals of Otology, Rhinology, and Laryngology·S N MerchantJ B Nadol
Sep 2, 2003·American Journal of Medical Genetics. Part a·Bernd WollnikMemnune Yuksel-Apak
Jan 14, 2012·Current Protocols in Human Genetics·Lindsay Farrer, Mark Logue
Feb 3, 2005·Blood·Rong HuRobert A Brodsky
Apr 13, 2001·The Journal of Biological Chemistry·I SaadiA F Russo
May 15, 2002·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Donald Newgreen, Heather M Young
Apr 23, 2008·Current Protocols in Human Genetics·Lindsay Farrer
Feb 10, 2009·Biochemistry·Gabriel BirraneJohn A A Ladias

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