title: [Progress in the study of syndromic hearing loss resulted from neural crest abnormalities].
abstract: More than 400 types of syndromic hearing loss (SHL) have been reported so far, in which Waardenburg syndrome (WS), congenital microtia syndrome (CMS), and large vestibular aqueduct syndrome (LVAS) are the most common ones in clinic. However, it is difficult to study the genetic basis and pathogenesis of SHL in a systematical way because of the strong clinical and genetic heterogeneity of SHL. Dysfunction of neural crest cells (NCC), which are caused by the gene interaction network extended from SOX10 and PAX3, are relevant to the phenotype of WS, CMS and LVAS. Our previous study also confirmed that the gene network was involved in the pathogenesis of WS. In this review, we summarize research progress in the pathogenic mechanisms of SHL resulted from defects in neural crest decelopment, and provide the gene interaction network of neural crest abnormalities resulting in SHL, and hope to provide research ideas and theoretical basis for the systematical study on pathogenesis of common SHL.
authors.affiliation: Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha 410008, China; Province Key Laboratory of Otolaryngology Critical Diseases, Changsha 410008, China; State Key Laboratory of Medical Genetics, Central South University, Changsha 410078, China.
authors.forename: Liu
authors.initials: L
authors.lastname: Yalan
authors.affiliation: Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.
authors.forename: Zhang
authors.initials: Z
authors.lastname: Hua
authors.affiliation: Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha 410008, China; Province Key Laboratory of Otolaryngology Critical Diseases, Changsha 410008, China; State Key Laboratory of Medical Genetics, Central South University, Changsha 410078, China;
authors.forename: Feng
authors.initials: F
authors.lastname: Yong
mesh_terms: D065817:Congenital Microtia / Q000235:genetics; D053263:Gene Regulatory Networks; D034381:Hearing Loss / Q000209:etiology / Q000235:genetics*; D006801:Humans; D051739:Microphthalmia-Associated Transcription Factor / Q000502:physiology; D009432:Neural Crest / Q000002:abnormalities*; D000072041:PAX3 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics / Q000502:physiology; D055757:SOXE Transcription Factors / Q000235:genetics / Q000502:physiology
chemical_list: C497234:MITF protein, human; D051739:Microphthalmia-Associated Transcription Factor; D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D051761:Paired Box Transcription Factors; C527923:SOX10 protein, human; D055757:SOXE Transcription Factors