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A Novel PAX3 Mutation in a Chinese Family with Waardenburg Syndrome Type 1

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收录情况： ◇ SCIE

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机构： [1]Kunming Med Univ, Affiliated Hosp 1, Dept Otolaryngol, 295 Xichang Rd, Kunming 650032, Yunnan, Peoples R China

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关键词： PAX3 Waardenburg syndrome autosomal dominant inheritance

摘要：

Aims: To determine the clinical characteristics and genetic cause of Waardenburg syndrome type 1 (WS1) in a Chinese family. Materials and Methods: Evaluations, including history, clinical features, and audiological tests, were performed on the proband and her parents. Genetic analyses were performed targeting 144 known deafness genes using a next-generation sequencing panel. Bioinformatic analyses were used to analyze the candidate mutation. Results: The proband and her parents suffered from congenital bilateral profound hearing loss. Her mother exhibited bilateral blue irides. WS1 was diagnosed in the proband and er mother according to the Waardenburg syndrome consortium criteria: the calculated W index of the proband was 2.39 and that of her mother was 2.31. A novel mutation c.1076_1077del (p.Thr359fs) in exon 7 of the PAX3 gene (paired box 3) was identified in the proband and her mother that was absent in the father and controls. Conclusion: Mutations in exon 7 of the PAX3 gene are rare. We identified a novel frameshift mutation in exon 7 of the PAX3 gene that we determined was responsible for WS1 in this family.

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出版当年[2021]版：

大类 | 4 区生物

小类 | 4 区遗传学

最新[2023]版：

大类 | 4 区生物学

小类 | 4 区遗传学

JCR分区：

出版当年[2020]版：

Q4 GENETICS & HEREDITY

最新[2023]版：

Q4 GENETICS & HEREDITY

影响因子： 1.1 最新[2023版] 1.5 最新五年平均 1.795 出版当年[2020版] 1.526 出版当年五年平均 1.378 出版前一年[2019版] 1.736 出版后一年[2021版]

第一作者：

第一作者机构： [1]Kunming Med Univ, Affiliated Hosp 1, Dept Otolaryngol, 295 Xichang Rd, Kunming 650032, Yunnan, Peoples R China

通讯作者：

通讯机构： [1]Kunming Med Univ, Affiliated Hosp 1, Dept Otolaryngol, 295 Xichang Rd, Kunming 650032, Yunnan, Peoples R China

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