与角膜炎-鱼鳞病-耳聋综合征中连接蛋白26突变相关的耳蜗球囊发育异常。
Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome.
作者信息
Griffith Andrew J, Yang Yandan, Pryor Shannon P, Park Hong-Joon, Jabs Ethylin Wang, Nadol Joseph B, Russell Laura J, Wasserman Daniel I, Richard Gabriele, Adams Joe C, Merchant Saumil N
机构信息
Section on Gene Structure and Function, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, USA.
出版信息
Laryngoscope. 2006 Aug;116(8):1404-8. doi: 10.1097/01.mlg.0000224549.75161.ca.
Abstract
OBJECTIVE
The objective of this study was to characterize the temporal bone phenotype associated with a mutation of GJB2 (encoding connexin 26).
STUDY DESIGN
The authors conducted correlative clinical, molecular genetic, and postmortem histopathologic analysis.
METHODS
The study subject was a male infant with keratitis-ichthyosis-deafness (KID) syndrome. We performed a nucleotide sequence analysis of GJB2 and a histopathologic analysis of the temporal bones.
RESULTS
The subject was heterozygous for G45E, a previously reported KID syndrome mutation of GJB2. The primary inner ear abnormality was dysplasia of the cochlear and saccular neuroepithelium.
CONCLUSIONS
GJB2 mutations can cause deafness in KID syndrome, and possibly in other GJB2 mutant phenotypes, by disrupting cochlear differentiation.
摘要
目的
本研究的目的是描述与GJB2（编码连接蛋白26）突变相关的颞骨表型。
研究设计
作者进行了相关的临床、分子遗传学和尸检组织病理学分析。
方法
研究对象是一名患有角膜炎-鱼鳞病-耳聋（KID）综合征的男婴。我们对GJB2进行了核苷酸序列分析，并对颞骨进行了组织病理学分析。
结果
该受试者为G45E杂合子，G45E是先前报道的GJB2的KID综合征突变。主要的内耳异常是耳蜗和球囊神经上皮发育异常。
结论
GJB2突变可通过破坏耳蜗分化导致KID综合征耳聋，也可能导致其他GJB2突变表型耳聋。
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