【摘要】：目的:報告1例角膜炎-魚鱗病-耳聾綜合征并進行基因檢測。方法:收集1例角膜炎-魚鱗病-耳聾綜合征患兒的臨床資料,提取患兒及其家族成員(父母和舅舅)外周血DNA進行基因突變檢測。結果:該患兒皮損組織病理檢查示魚鱗病樣改變�；驒z測示GJB2基因外顯子2中的第148位堿基發(fā)生G→T雜合突變(c.148G→T),導致其編碼的第50位氨基酸發(fā)生錯義突變(p.Asp50Tyr)。結論:根據(jù)患兒典型的臨床表現(xiàn)和基因檢測結果診斷為角膜炎-魚鱗病-耳聾綜合征。基因檢測有助于明確該病診斷。
[Abstract]:Objective: to report a case of keratitis-ichthyosis-deafness syndrome and to detect the gene. Methods: the clinical data of a child with keratitis-ichthyosis-deafness syndrome were collected and the DNA gene mutation was detected in the peripheral blood of the children and their family members (parents and uncles). Results: the pathological examination of the skin lesions of the children showed fish scale-like changes. Gene analysis showed that G / T heterozygous mutation (c. 148) occurred at 148th base in exon 2 of GJB2 gene, which resulted in missense mutation (p.Asp50Tyr) at the 50th amino acid of GJB2 gene. Conclusion: keratitis-ichthyosis-deafness syndrome is diagnosed as keratitis-ichthyosis-deafness syndrome. Gene detection can help to identify the diagnosis of the disease.
【作者單位】： 首都醫(yī)科大學附屬北京兒童醫(yī)院皮膚科;
【分類號】：R758.52
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本文編號：2464880