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首页> 外文期刊>Journal of genetics >A novel deletion mutation of the SOX2 gene in a child of Chinese origin with congenital bilateral anophthalmia and sensorineural hearing loss
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A novel deletion mutation of the SOX2 gene in a child of Chinese origin with congenital bilateral anophthalmia and sensorineural hearing loss

机译：中国儿童先天性双侧眼球炎和感音神经性听力下降的新型SOX2基因缺失突变

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Congenital anophthalmia is a rare eye anomaly which lacks a recognizable eye in the orbit. It can be isolated (nonsyndromic) or be observed as a sign of other diseases (syndromic). A Chinese infant was born with bilateral anophthalmia and palpebral fissure closures. Ocular and systemic examinations were performed, and genomic DNA was prepared from peripheral leukocytes. The coding exons and the adjacent intrinsic sequence of SOX2 were analysed by Sanger sequencing. A c.70_89del (p. Asn24ArgfsX65; rs398123693) mutation in SOX2 was identified in the Chinese infant with bilateral clinical anophthalmia andsensorineural hearing loss. This mutation was not detected in the unaffected parents and 150 unaffected control individuals. Mutation in SOX2 is associated with bilateral clinical anophthalmia and probably with other anomalies in the Chinese infant. Until nowhearing loss has not been reported in individuals with SOX2 mutation. The results remind us that clinical anophthalmia may be accompanied by sensorineural hearing loss and may be associated with SOX2 mutation, and it will contribute to improving diagnosis and patient care. Given that children with anophthalmia already have reduced sight, it seems worthwhile to make a point of careful vigilance on hearing for all such patients.
机译：先天性眼炎是一种罕见的眼部异常，在眼眶中缺乏可识别的眼睛。它可以被隔离（非综合症）或被视为其他疾病的征兆（综合症）。一名中国婴儿出生时患有双侧性眼球炎和睑裂闭合。进行了眼睛和全身检查，并从外周血白细胞制备了基因组DNA。通过Sanger测序分析了SOX2的编码外显子和邻近的内在序列。在患有双侧临床性失语症和感音神经性听力丧失的中国婴儿中，发现SOX2出现c.70_89del（p。Asn24ArgfsX65; rs398123693）突变。在未受影响的父母和150个未受影响的对照个体中未检测到此突变。 SOX2突变与中国临床双侧双眼性眼炎以及其他异常有关。到目前为止，尚未报道具有SOX2突变的个体的听力丧失。结果提醒我们，临床性失语症可能伴有感觉神经性听力损失，并可能与SOX2突变有关，这将有助于改善诊断和患者护理。鉴于患有失语症的儿童的视力已经降低，似乎值得对所有此类患者的听力保持谨慎。

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