title: [SOX10 mutation is relevant to inner ear malformation in patients with Waardenburg syndrome].
abstract: Objective:To determine the relevance between theSOX10 mutation and Waardenburg syndrome (WS) accompanied with inner ear abnormality by analyzing the inner ear imaging results and molecular and genetic results of the WS patients with theSOX10 mutation.Methods:This study included 36 WS in patients during 2001 and 2015 in the department of otorhinolaryngology head and neck surgery, Chinese Peoples's Liberation Army General Hospital. The condition of the inner ear of each patient was assessed by analyzing HRCT scans of the temporal bone and MRI scans of the brain and internal auditory canal. Meanwhile, the possible pathogenic genes of WS, includingSOX10, MITF, andPAX3, were also screened. Patients were divided into two groups according toSOX10 mutation.The Fisher accuracy test was used to determine statistical difference of inner ear deformation incidence between the two groups.Results:Among all 36 patients, 12 were found to have inner ear abnormality. Most abnormalities were posterior semicircular canal deformations, some accompanied with cochlear deformation and an enlarged vestibule. Among all patients, 9 patients wereSOX10 heterozygous mutation carriers, among which six showed bilateral inner ear abnormality. Fisher accuracy test results suggested a significant correlation between theSOX10 mutation and inner ear abnormality in WS patients (P=0.036).Conclusion:This study found that WS patients with theSOX10 mutation are more likely to have deformed inner ears when compared to WS patients without theSOX10 mutation.
authors.affiliation: Department of Otorhinolaryngology Head and Neck Surgery, Chinese Peoples's Liberation Army General Hospital, 100853 Beijing, China.
authors.forename: G Y
authors.initials: GY
authors.lastname: Xu
authors.affiliation: Department of Otorhinolaryngology Head and Neck Surgery, Chinese Peoples's Liberation Army General Hospital, 100853 Beijing, China.
authors.forename: Q Q
authors.initials: QQ
authors.lastname: Hao
authors.affiliation: Department of Otorhinolaryngology Head and Neck Surgery, Chinese Peoples's Liberation Army General Hospital, 100853 Beijing, China; School of Medical, Nankai University, 300071 Tianjin, China.
authors.forename: L L
authors.initials: LL
authors.lastname: Zhong
authors.affiliation: Department of Otorhinolaryngology Head and Neck Surgery, Chinese Peoples's Liberation Army General Hospital, 100853 Beijing, China.
authors.forename: W
authors.initials: W
authors.lastname: Ren
authors.affiliation: Department of Otorhinolaryngology Head and Neck Surgery, Chinese Peoples's Liberation Army General Hospital, 100853 Beijing, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Yan
authors.affiliation: Department of Otorhinolaryngology Head and Neck Surgery, Chinese Peoples's Liberation Army General Hospital, 100853 Beijing, China.
authors.forename: R Y
authors.initials: RY
authors.lastname: Liu
authors.affiliation: Department of Otorhinolaryngology Head and Neck Surgery, Chinese Peoples's Liberation Army General Hospital, 100853 Beijing, China.
authors.forename: J N
authors.initials: JN
authors.lastname: Li
authors.affiliation: Department of Otorhinolaryngology Head and Neck Surgery, Chinese Peoples's Liberation Army General Hospital, 100853 Beijing, China.
authors.forename: W W
authors.initials: WW
authors.lastname: Guo
authors.affiliation: Department of Otorhinolaryngology Head and Neck Surgery, Chinese Peoples's Liberation Army General Hospital, 100853 Beijing, China.
authors.forename: H
authors.initials: H
authors.lastname: Zhao
authors.affiliation: Department of Otorhinolaryngology Head and Neck Surgery, Chinese Peoples's Liberation Army General Hospital, 100853 Beijing, China.
authors.forename: S M
authors.initials: SM
authors.lastname: Yang
mesh_terms: D044466:Asian People; D003051:Cochlea / Q000002:abnormalities / Q000000981:diagnostic imaging; D007758:Ear, Inner / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D051739:Microphthalmia-Associated Transcription Factor / Q000235:genetics; D009154:Mutation; D000072041:PAX3 Transcription Factor / Q000235:genetics; D055757:SOXE Transcription Factors / Q000235:genetics*; D012665:Semicircular Canals / Q000002:abnormalities / Q000000981:diagnostic imaging; D013701:Temporal Bone / Q000002:abnormalities* / Q000000981:diagnostic imaging; D036542:Tomography, Spiral Computed / Q000379:methods; D014849:Waardenburg Syndrome / Q000235:genetics*
chemical_list: C497234:MITF protein, human; D051739:Microphthalmia-Associated Transcription Factor; D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D055757:SOXE Transcription Factors