Abstract
Shah-Waardenburg syndrome is a rare congenital disorder with variable clinical expression, characterised by aganglionosis of the rectosigmoïd (Hirschsprung disease), and abnormal melanocyte migration, resulting in pigmentary abnormalities and sensorineural deafness (Waardenburg syndrome). Mutations in the EDN, EDNRB and SOX10 genes can be found in patients with this syndrome. SOX10 mutations are specifically associated with a more severe phenotype called PCWH: peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease. Neuronal expression of SOX10 occurs in neural crest cells during early embryonic development and in glial cells of the peripheral and central nervous systems during late embryonic development and in adults. We present a 4-year-old girl with the PCWH phenotype associated with a de novo nonsense mutation (S384X) in SOX10. Main clinical features were mental retardation, peripheral neuropathy, deafness, Hirschsprung disease, distal arthrogryposis, white hairlock, and growth retardation. She presented with hypotonia, developmental delay, reduced peripheral nerve conduction velocities, and radiologically assessed central hypomyelination. Subsequently, the ...Continue Reading
References
Sep 1, 1996·Magnetic Resonance in Medicine : Official Journal of the Society of Magnetic Resonance in Medicine·J Lee, J A Barry
Jan 13, 1998·Nature Genetics·E M Southard-SmithW J Pavan
Feb 14, 1998·Nature Genetics·V PingaultM Goossens
Jun 6, 1998·Proceedings of the National Academy of Sciences of the United States of America·B HerbarthM Wegner
Sep 11, 1999·Annals of Neurology·K InoueJ R Lupski
Apr 11, 2000·Molecular and Cellular Biology·R I PeiranoM Wegner
Jul 6, 2000·Brain Research. Developmental Brain Research·Y ChengP J Scotting
Aug 15, 2000·Human Molecular Genetics·N BondurandM Goossens
Jan 13, 2001·Genes & Development·S BritschM Wegner
Sep 8, 2001·Journal of Medical Genetics·M H ShamP K Tam
Dec 4, 2001·Mechanisms of Development·E Sonnenberg-RiethmacherD Riethmacher
Dec 6, 2001·Human Molecular Genetics·N BondurandM Goossens
Jan 19, 2002·Genes & Development·C Claus StoltMichael Wegner
Aug 22, 2002·Human Genetics·Véronique PingaultMichel Goossens
Nov 26, 2002·Annals of Neurology·Ken InoueDimitri P Agamanolis
Mar 9, 2004·Nature Genetics·Ken InoueJames R Lupski
Citations
Feb 5, 2010·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Avencia Sánchez-MejíasSalud Borrego
May 7, 2010·Pigment Cell & Melanoma Research·Melissa L HarrisWilliam J Pavan
Apr 9, 2013·The Pan African Medical Journal·Abdelhalim MahmoudiBouabdallah Youssef
Jan 10, 2009·Disease Models & Mechanisms·Kirsten DuttonTanya T Whitfield
Apr 17, 2014·International Journal of Pediatric Otorhinolaryngology·Kaitian ChenHongyan Jiang
Aug 9, 2011·European Journal of Pediatrics·Alexandra UnzickerSteffen Kunzmann
Apr 15, 2014·Journal of Pediatric Surgery·Anna Löf GranströmAgneta Nordenskjöld
Jan 24, 2012·Progress in Neurobiology·Emanuele PanzaRoberto De Giorgio
Oct 20, 2011·Journal of Pediatric Surgery·Zhi-Wen PanJi-Cheng Li
Apr 20, 2010·Pediatric Neurology·Simona OrcesiUmberto Balottin
Apr 15, 2008·Journal of Pediatric Surgery·Iftikhar A JanZaheer-ud Din
Sep 19, 2009·American Journal of Medical Genetics. Part a·Antonio ViñuelaIgnacio del Castillo
Feb 12, 2009·American Journal of Medical Genetics. Part a·C P BarnettW Reardon
Sep 23, 2008·Glia·Steven S Scherer, Lawrence Wrabetz
Jan 17, 2012·Muscle & Nerve·Kathleen PartheyJ Michael Schröder
Apr 3, 2012·Journal of the Peripheral Nervous System : JPNS·Eppie M Yiu, Monique M Ryan
Feb 4, 2010·Human Mutation·Véronique PingaultNadège Bondurand
Jun 24, 2015·Clinical Genetics·J SongI J Dhooge
Jun 1, 2016·International Journal of Pediatric Otorhinolaryngology·Jing MaBiao Ruan
May 19, 2010·Biochemical and Biophysical Research Communications·Hongsheng ChenYong Feng
Dec 24, 2014·PloS One·Sayaka FujiwaraToru Ogata
Dec 7, 2018·Pigment Cell & Melanoma Research·Saskia Anna GrafCarola Berking
Mar 19, 2008·American Journal of Medical Genetics. Part a·Yves SznajerRenaud L Touraine
Mar 19, 2008·American Journal of Medical Genetics. Part a·Matías MorínIgnacio del Castillo
Sep 5, 2009·Journal of Clinical Neuromuscular Disease·Aiesha Ahmed, Zachary Simmons
Nov 1, 2009·Material Religion : the Journal of Objects, Art and Belief·Timothy Insoll
Dec 14, 2011·Oral and Maxillofacial Surgery·Marcelo Rodrigues AzenhaIdelmo Rangel Garcia
Apr 5, 2011·European Child & Adolescent Psychiatry·Suzy GuirguisCarole Kaplan
Oct 14, 2011·ISRN Nursing·Gloria F Carr
Sep 12, 2012·The Journal of Dermatology·Tomoko OshimoTamio Suzuki
Mar 12, 2020·Fetal and Pediatric Pathology·Slobodan SekulicIvan Capo
Jul 11, 2013·PloS One·Long CuiMaria-Mercè Garcia-Barceló
Aug 27, 2019·Therapeutic Advances in Neurological Disorders·Jo M WilmshurstMonique M Ryan
Sep 11, 2020·Neural Plasticity·Xiaoyu YuHao Wu
Aug 12, 2020·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Anna Szumera-CiećkiewiczUNKNOWN EORTC Melanoma Group
Nov 20, 2016·International Journal of Pediatric Otorhinolaryngology·Fenghe LiangChunyan Qu
Jun 26, 2021·European Journal of Medical Genetics·Marika F MoldenæsLisbeth Tranebjærg