脊柱侧凸合并感音神经性聋相关综合征遗传学研究进展

Advances in studies on genetics of syndromes combining sensorineural hearing loss with scoliosis

脊柱侧凸(scoliosis)是指脊柱的1个或数个节段向侧方弯曲并伴有椎体旋转的三维脊柱畸形,正位X线片Cobb法测量椎体侧凸角度大于10°即可确诊。脊柱侧凸可与其他系统畸形构成特定的临床综合征,合并听力损失的综合征包括遗传性结缔组织综合征、遗传性神经肌肉病、溶酶体贮积症(lysosomal storage disease)、内分泌紊乱相关综合征等几大类综合征群组。

Sensorineural hearing loss and scoliosis are common in several disease groups, such as hereditary connective tissue syndrome, hereditary motor and sensory neuropathy, lysosomal storage syndrome and endocrine disorders. These diseases have significant phenotypic diversity and genetic heterogeneity, different subtypes show inconsistent characteristics of deafness. Moreover, subtypes with similar clinical manifestations have different genetic mechanisms. Using new generation sequencing technology, considerable progress has been achieved in these diseases. This paper reviews clinical manifestations and genetic mechanism of syndromes combining sensorineural hearing loss and scoliosis.