Review and update of mutations causing Waardenburg syndrome

Human Mutation
V PingaultN Bondurand

Abstract

Waardenburg syndrome (WS) is characterized by the association of pigmentation abnormalities, including depigmented patches of the skin and hair, vivid blue eyes or heterochromia irides, and sensorineural hearing loss. However, other features such as dystopia canthorum, musculoskeletal abnormalities of the limbs, Hirschsprung disease, or neurological defects are found in subsets of patients and used for the clinical classification of WS. Six genes are involved in this syndrome: PAX3 (encoding the paired box 3 transcription factor), MITF (microphthalmia-associated transcription factor), EDN3 (endothelin 3), EDNRB (endothelin receptor type B), SOX10 (encoding the Sry bOX10 transcription factor), and SNAI2 (snail homolog 2), with different frequencies. In this review we provide an update on all WS genes and set up mutation databases, summarize molecular and functional data available for each of them, and discuss the applications in diagnostics and genetic counseling.

References

Nov 1, 1977·Archives of Otolaryngology·M J Hageman, W J Oosterveld
Feb 1, 1992·American Journal of Medical Genetics·R Sheffer, J Zlotogora
Oct 1, 1990·Journal of Medical Genetics·J H Asher, T B Friedman
Feb 1, 1990·The Journal of Laryngology and Otology·V Newton
Dec 1, 1989·The Journal of Laryngology and Otology·M HildesheimerR M Goodman
Nov 1, 1987·Ophthalmic Paediatrics and Genetics·E KawabataM Osame
Jul 1, 1987·American Journal of Medical Genetics·F MeireL H Zeng
Nov 1, 1984·The Journal of Heredity·P W Lane, H M Liu
Jan 2, 1995·American Journal of Medical Genetics·X Z LiuA P Read
Feb 1, 1995·The Journal of Laryngology and Otology·X LiuA Read
Apr 26, 1994·Proceedings of the National Academy of Sciences of the United States of America·G ChalepakisP Gruss
Jan 1, 1994·Human Mutation·C T BaldwinA Milunsky
Jan 1, 1993·Cytogenetics and Cell Genetics·B L WuJ Skare
Jan 1, 1993·Nature Genetics·M TassabehjiT Strachan
Aug 28, 1995·American Journal of Medical Genetics·C T BaldwinA Milunsky
Nov 1, 1995·Trends in Genetics : TIG·K J Moore
Nov 1, 1995·Human Molecular Genetics·M TassabehjiW Reardon
Dec 1, 1995·Human Molecular Genetics·T AttiéS Lyonnet
Jun 1, 1996·Molecular and Cellular Probes·G WildhardtB Zabel
Oct 11, 1996·The Journal of Biological Chemistry·N A ElshourbagyP Nambi

❮ Previous
Next ❯

Citations

Jun 18, 2010·Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete·K Giehl, M Braun-Falco
Mar 2, 2012·European Journal of Human Genetics : EJHG·Nadége BondurandVeronique Pingault
Sep 15, 2012·Brain : a Journal of Neurology·Krishna ChinthapalliSanjay M Sisodiya
Oct 27, 2010·Database : the Journal of Biological Databases and Curation·Laura L BaxterWilliam J Pavan
May 7, 2010·Pigment Cell & Melanoma Research·Melissa L HarrisWilliam J Pavan
May 10, 2012·PLoS Genetics·Juying LiDavid E Fisher
Sep 29, 2011·PloS One·Hana KimJoomyeong Kim
Aug 1, 2012·PloS One·Viviane BaralNadege Bondurand
Dec 19, 2013·PloS One·David Y ChiangFred A Pereira
Mar 3, 2012·Pediatrics in Review·Joshua Wong
Jun 22, 2013·Human Molecular Genetics·Christine GrillEiríkur Steingrímsson
Apr 17, 2014·International Journal of Pediatric Otorhinolaryngology·Kaitian ChenHongyan Jiang
Dec 3, 2013·European Journal of Cell Biology·Brigitte Bressac-de PailleretsCorine Bertolotto
Apr 18, 2014·Journal of the American Veterinary Medical Association·Stéphanie PiazzaLaurent Cauzinille
Jun 3, 2014·International Journal of Pediatric Otorhinolaryngology·Georgios KontorinisAnja M Giesemann
May 21, 2011·AJNR. American Journal of Neuroradiology·B Y HuangM Castillo
Dec 15, 2012·AJNR. American Journal of Neuroradiology·M Elmaleh-BergèsV Pingault
Aug 9, 2011·European Journal of Pediatrics·Alexandra UnzickerSteffen Kunzmann
Apr 15, 2014·Journal of Pediatric Surgery·Anna Löf GranströmAgneta Nordenskjöld
Oct 2, 2013·Mayo Clinic Proceedings·Miguel F Carrascosa, José R Salcines-Caviedes
Apr 29, 2015·Developmental Biology·Amy Saldana-CaboverdeLidia Kos
Jul 16, 2013·Journal of the American Academy of Dermatology·Rima SleimanOssama Abbas
May 18, 2013·Journal of the American Academy of Dermatology·Ho Joo JungSook Jung Yun
Oct 8, 2015·Otolaryngologic Clinics of North America·Tal KofflerKaren B Avraham
May 19, 2012·Differentiation; Research in Biological Diversity·Anna Keyte, Mary Redmond Hutson
Apr 28, 2012·Medicina clínica·Víctor FaundesSilvia Castillo Taucher
Apr 26, 2011·Acta otorrinolaringológica española·Rubén Cabanillas Farpón, Juan Cadiñanos Bañales

❮ Previous
Next ❯

Related Concepts

Related Feeds

Auditory Perception

Auditory perception is the ability to receive and interpret information attained by the ears. Here is the latest research on factors and underlying mechanisms that influence auditory perception.