导致黄斑角膜营养不良的新型CHST6无义突变和错义突变。
Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy.
作者信息
El-Ashry Mohamed F, Abd El-Aziz Mai M, Shalaby Osama, Wilkins Simon, Poopalasundaram Subathra, Cheetham Michael, Tuft Stephen J, Hardcastle Alison J, Bhattacharya Shomi S, Ebenezer Neil D
机构信息
Department of Molecular Genetics, Institute of Ophthalmology, London, United Kingdom.
出版信息
Am J Ophthalmol. 2005 Jan;139(1):192-3. doi: 10.1016/j.ajo.2004.07.001.
PURPOSE
To identify the underlying mutations in two unrelated British families with macular corneal dystrophy (MCD) by screening the carbohydrate sulfotransferase (CHST6) gene.
DESIGN
Case reports and results of DNA analysis.
METHODS
Two subjects from two British families with MCD were studied. The genetic status of CHST6 was determined for all members of these MCD families. In addition, sulfated keratan sulfate (KS) assay from the probands was also undertaken. CHST6 gene was amplified by polymerase chain reaction (PCR). The PCR products were analyzed by sequencing and restriction digestion. Enzyme-linked immunosorbent assay (ELISA) was performed to assess KS presence in serum.
RESULTS
Four compound heterozygous mutations were identified, three of which are novel. The ELISA showed that the probands were of MCD type I.
CONCLUSIONS
These novel mutations are expected to result in loss of CHST6 function, which would account for the MCD phenotype.
目的
通过筛查碳水化合物硫酸转移酶（CHST6）基因，确定两个患有黄斑角膜营养不良（MCD）的不相关英国家庭中的潜在突变。
设计
病例报告及DNA分析结果。
方法
对两个患有MCD的英国家庭中的两名受试者进行研究。确定这些MCD家庭所有成员的CHST6基因状态。此外，还对先证者进行了硫酸角质素（KS）检测。通过聚合酶链反应（PCR）扩增CHST6基因。PCR产物通过测序和限制性酶切分析。采用酶联免疫吸附测定（ELISA）评估血清中KS的存在情况。
结果
鉴定出四个复合杂合突变，其中三个是新的。ELISA显示先证者为I型MCD。
结论
这些新突变预计会导致CHST6功能丧失，这可以解释MCD的表型。
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