screening of mitf and sox10 regulatory regions in waardenburg syndrome type 2筛选mitf华尔登布尔氏综合症和sox10监管地区2型.pdfVIP

Screening of MITF and SOX10 Regulatory Regions in Waardenburg Syndrome Type 2 1,2 1,2 1,2 1,2,3 4 Viviane Baral , Asma Chaoui , Yuli Watanabe , Michel Goossens , Tania Attie-Bitach , Sandrine Marlin5, Veronique Pingault1,2,3, Nadege Bondurand1,2* ´ ´ ´ ´ ´ ˆ 1 INSERM, U955, equipe11, Creteil, France, 2 Universite Paris Est, Faculte de Medecine, Creteil, France, 3 AP-HP, Hopital H.Mondor-A. Chenevier, Service de biochimie et ´ ´ ´ ´ ˆ ´ ´ ´ ´ ´ genetique, Creteil, France, 4 INSERM U781, Universite Paris Descartes, Hopital Necker-Enfants Malades, Paris, France, 5 Service de Genetique, Centre de reference «Surdites ´ ´ ˆ genetiques», INSERM U587, Hopital Armand Trousseau, APHP, Paris, France Abstract Waardenburg syndrome (WS) is a rare auditory-pigmentary disorder that exhibits varying combinations of sensorineural hearing loss and pigmentation defects. Four subtypes are clinically defined based on the presence or absence of additional symptoms. WS type 2 (WS2) can result from mutations within the MITF or SOX10 genes; however, 70% of WS2 cases remain unexplained at the molecular level, suggesting that other genes might be involved and/or that mutations within the known genes escaped previous screenings. The recent identification of a deletion encompassing three of the SOX10 regulatory elements in a patient presenting with another WS subtype, WS4, defined by its association with Hirschsprung disease, led us to search f