[Analysis of molecular genetics and clinical characteristics of 3 children with Waardenburg syndrome].

Autor:	Lin Z; Department of Otorhinolaryngology Head and Neck Surgery，People's Hospital of Guangxi Zhuang Autonomous Region，Nanning，530021，China., Tang J; Department of Otorhinolaryngology Head and Neck Surgery，People's Hospital of Guangxi Zhuang Autonomous Region，Nanning，530021，China., Yun L; Department of Otorhinolaryngology Head and Neck Surgery，People's Hospital of Guangxi Zhuang Autonomous Region，Nanning，530021，China., Zhou K; Department of Otorhinolaryngology Head and Neck Surgery，People's Hospital of Guangxi Zhuang Autonomous Region，Nanning，530021，China., Huang L; Department of Otorhinolaryngology Head and Neck Surgery，People's Hospital of Guangxi Zhuang Autonomous Region，Nanning，530021，China., Qu S; Department of Otorhinolaryngology Head and Neck Surgery，People's Hospital of Guangxi Zhuang Autonomous Region，Nanning，530021，China., Wang T; Department of Otorhinolaryngology Head and Neck Surgery，People's Hospital of Guangxi Zhuang Autonomous Region，Nanning，530021，China., Mo J; Department of Otorhinolaryngology Head and Neck Surgery，People's Hospital of Guangxi Zhuang Autonomous Region，Nanning，530021，China., Li F; Department of Otorhinolaryngology Head and Neck Surgery，People's Hospital of Guangxi Zhuang Autonomous Region，Nanning，530021，China., Tang F; Department of Otorhinolaryngology Head and Neck Surgery，People's Hospital of Guangxi Zhuang Autonomous Region，Nanning，530021，China.
Jazyk:	čínština
Zdroj:	Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery [Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi] 2023 Feb; Vol. 37 (2), pp. 107-112.
DOI:	10.13201/j.issn.2096-7993.2023.02.006
Abstrakt:	Objective: To analyze the molecular genetics and clinical characteristics of 3 children with syndromic deafness were analyzed to clarify their causative genes and genetic characteristics. Methods: The medical records of 3 children and their parents were collected and analyzed, including physical examination, hearing evaluation, temporal bone CT, and cranial MRI. Whole-exome sequencing（WES） was used to screen for pathogenic gene variants, and Sanger sequencing was used to verify the candidate positive variants in the probands and their parents. Results: All 3 patients were female with normal intelligence. Patient 1 and 3 had a family history of deafness, which conformed to the pattern of autosomal dominant inheritance. All three patients had bilateral profound sensorineural hearing impairment with bright-blue sclera. Other phenotypes included hypertelorism（patient 1）, multiple dyschromatosis（patient 2）, and yellowish hair（patient 2）, blepharoptosis（patient 3）. Patient 3 had bilateral vestibular enlargement, internal auditory canal enlargement, and bilateral inner ear malformations. Mother of patient 1 had only left mild hearing impairment; mother of patient 3 had bilateral hearing impairment with unilateral bright-blue sclera and yellowish hair. WES detected heterozygous variants, PAX3 c.811C>T, MITF c.632T>C, and SOX10 c.1359_1360 insGCCCCACA, in patient 1, 2, and 3, respectively. The variants in patient 1 and 3 were inherited from their mothers who had hearing impairment, and MITF variant in patient 2 may be a spontaneous variation. The final diagnoses were that patient 1 with Waardenburg syndrome type 1（WS1）, and the mother of patient 1, patient 2, patient 3, and the mother of patient 3 with WS2. Conclusion: WS is a syndromic deafness, and the main clinical features include autosomal dominant inheritance and scleral pigment abnormalities. However, the findings of this study show that there is still phenotypic heterogeneity in WS even caused by the same gene variant, so it depends on genetic tests to confirm the diagnosis; The gene variant of patient 1 and 2 was never been reported in other patients, which expands the pathogenic variant spectrum of WS. Competing Interests: The authors of this article and the planning committee members and staff have no relevant financial relationships with commercial interests to disclose. (Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.)
Databáze:	MEDLINE
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