Chen Kaitian, Zong Ling, Liu Min, Zhan Yuan, Wu Xuan, Zou Wenting, Jiang Hongyan
Department of Otorhinolaryngology, The First Affiliated Hospital, Sun Yat-Sen University and Institute of Otorhinolaryngology, Sun Yat-sen University, Guangzhou 510080, PR China.
Department of Otorhinolaryngology, The First Affiliated Hospital, Sun Yat-Sen University and Institute of Otorhinolaryngology, Sun Yat-sen University, Guangzhou 510080, PR China.
Int J Pediatr Otorhinolaryngol. 2014 Jun;78(6):926-9. doi: 10.1016/j.ijporl.2014.03.014. Epub 2014 Mar 27.
Waardenburg syndrome is a rare genetic disorder, inherited as an autosomal dominant trait. The condition is characterized by sensorineural hearing loss and pigment disturbances of the hair, skin, and iris. The de novo mutation in the SOX10 gene, responsible for Waardenburg syndrome type II, is rarely seen. The present study aimed to identify the genetic causes of Waardenburg syndrome type II in a Chinese family.
Clinical and molecular evaluations were conducted in a Chinese family with Waardenburg syndrome type II.
A novel SOX10 heterozygous c.259-260delCT mutation was identified. Heterozygosity was not observed in the parents and sister of the proband, indicating that the mutation has arisen de novo. The novel frameshift mutation, located in exon 3 of the SOX10 gene, disrupted normal amino acid coding from Leu87, leading to premature termination at nucleotide 396 (TGA). The high mobility group domain of SOX10 was inferred to be partially impaired.
The novel heterozygous c.259-260delCT mutation in the SOX10 gene was considered to be the cause of Waardenburg syndrome in the proband. The clinical and genetic characterization of this family would help elucidate the genetic heterogeneity of SOX10 in Waardenburg syndrome type II. Moreover, the de novo pattern expanded the mutation data of SOX10.
瓦登伯革氏综合征是一种罕见的遗传性疾病，呈常染色体显性遗传。该病症的特征为感音神经性听力损失以及毛发、皮肤和虹膜的色素紊乱。导致II型瓦登伯革氏综合征的SOX10基因新发突变较为罕见。本研究旨在确定一个中国家系中II型瓦登伯革氏综合征的遗传病因。
对一个患有II型瓦登伯革氏综合征的中国家系进行了临床和分子评估。
鉴定出一种新的SOX10杂合c.259 - 260delCT突变。在先证者的父母和姐妹中未观察到杂合性，表明该突变是新发的。这种新的移码突变位于SOX10基因的外显子3中，破坏了从Leu87开始的正常氨基酸编码，导致在核苷酸396（TGA）处提前终止。推测SOX10的高迁移率族结构域部分受损。
SOX10基因新的杂合c.259 - 260delCT突变被认为是先证者患瓦登伯革氏综合征的病因。该家系的临床和遗传特征将有助于阐明II型瓦登伯革氏综合征中SOX10的遗传异质性。此外，新发模式扩展了SOX10的突变数据。
