Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus
Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus
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DOI：
10.1007/s00439-002-0707-5
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发表时间：
2002-05-01
期刊：
影响因子：
5.3
通讯作者：
Engle, EC
中科院分区：
文献类型：
--
作者：
Mackey, DA;Chan, WM;Engle, EC
先天性眼外肌纤维化（CFEOM）的诊断包括几种不同的遗传性斜视综合征，其特征在于先天性限制性眼肌麻痹，影响由眼神经和/或肌营养神经支配的眼外肌。OMIM数据库（http：//www.ncbi.nlm.nih.gov/Omim/）目前包含四种家族性CFEOM表型：CFEOM 1 -3，其分别定位于FEOM 1 -3基因座（MIM 135600、602078、604361），以及垂直作用眼外肌的先天性纤维化（MIM 600638），其在没有相应基因型的单个家族中报道。我们有机会研究了具有这第四种表型的报告家族，现在证明了它们的表型可以重新分类为CFEOM 3，并且它映射到FEOM 3，侧翼为D16 S498至16 qter。最大LOD值为6.0。
The diagnosis of congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. The OMIM database (http://www.ncbi.nlm.nih.gov/Omim/) currently contains four familial CFEOM phenotypes: CFEOM1-3, which map to the FEOM1-3 loci (MIM 135600, 602078, 604361), respectively, and congenital fibrosis of the vertically acting extraocular muscles (MIM 600638), reported in a single family without a corresponding genotype. We have had the opportunity to study the reported family with this fourth phenotype and now demonstrate that their phenotype can be reclassified as CFEOM3 and that it maps to FEOM3, flanked by D16S498 to 16qter. with a maximum lod score of 6.0.