Mutation in PITX2 is associated with ring dermoid of the cornea
Mutation in PITX2 is associated with ring dermoid of the cornea
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DOI：
10.1136/jmg.2004.022434
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发表时间：
2004-12
影响因子：
4
通讯作者：
K. Xia;Ling-Qian Wu;X. Liu;X. Xi;D. Liang;D. Zheng;F. Cai;Q. Pan;Z. Long;H. Dai;Zhengmao Hu;B. Tang;Zhuo-hua Zhang;J. Xia
中科院分区：
文献类型：
--
作者：
K. Xia;Ling-Qian Wu;X. Liu;X. Xi;D. Liang;D. Zheng;F. Cai;Q. Pan;Z. Long;H. Dai;Zhengmao Hu;B. Tang;Zhuo-hua Zhang;J. Xia
角膜环形皮样（RDC, MIM180550）是一种常染色体显性遗传综合征，以双侧环状角膜缘皮样伴角膜和结膜延伸为特征。RDC的遗传基础尚不清楚。我们报道了染色体4q24-q26与RDC的连锁，并在17个疾病患者中发现了PITX2错义突变，而在8个遗传相关的中国大家庭中没有发现。我们确定了一个有17人受RDC影响的中国大家庭（图1和图2）。所有患者均由同一位医生（XHX）诊断。所有参与者均获得血样采集的知情书面同意。图1 2例患者II-2（上表）和IV-3（下表）角膜环皮样（RDC）受影响的眼睛。两眼角膜边缘可见黄白色肿瘤样空眼。角膜和结膜的浅层弥漫性空泡。角膜边界不清，角膜透明区直径缩小至约7 - 8mm。IV-3的右瞳孔上移是由于白内障切除术引起的（患者IV-3同时患有双侧青光眼和右眼先天性白内障）。图2角膜环皮样（RDC）家族的重组分析。RDC家族的家系及4q22-q26上14个标记的单倍型分析。标记（从上到下）为着丝粒- d4s1560 - d4s2966 - d4s1572 - d4s1570 - d4s1564 - d4s2945 - d4s2989 - d4s1616 - d4s406 - d4s193 - d4s1613 - d4s1522 - d4s1612 - d4s427 -端粒。与疾病共分离的单倍型被框起来。连锁分析和基因分型基本上与前面描述的一样采用覆盖所有常染色体的382个微卫星标记进行全基因组筛选，平均间隔为10 cM （ABI PRISM™连锁图谱集，2.0版）。好……
Ring dermoid of the cornea (RDC, MIM180550) is an autosomal dominantly inherited syndrome characterised by bilateral annular limbal dermoids with corneal and conjunctival extension. The genetic basis of RDC is unknown. We report linkage of chromosome 4q24-q26 to RDC and identification of a missense mutation in PITX2 in 17 disease affected individuals but not in eight genetically related normal individuals in a large Chinese family. A large Chinese family with 17 individuals affected by the RDC was identified (figs 1 and 2). All patients were diagnosed by the same physician (XHX). Informed written consent for blood sample collection was obtained from all participants. Figure 1 Eyes affected by ring dermoid of the cornea (RDC) in two patients, II-2 (upper panel) and IV-3 (lower panel). Yellow-white tumour-like apophyses are visible on the corneal border of both eyes. The apophyses are diffuse in the superficial layer of the cornea and conjunctiva. The corneal border is not clear and the diameter of the transparent region of cornea is diminished to about 7–8 mm. The upward shift of the right pupil of IV-3 is caused by cataract resection (the affected individual, IV-3, also has bilateral glaucoma and congenital cataracts in the right eye). Figure 2 Recombination analysis of the family with ring dermoid of the cornea (RDC). Pedigree of the family affected by RDC and haplotype analysis for 14 markers on 4q22-q26. Markers (from top to bottom) are centromere-D4S1560-D4S2966-D4S1572-D4S1570-D4S1564-D4S2945-D4S2989-D4S1616-D4S406-D4S193-D4S1613-D4S1522-D4S1612-D4S427-telomere. The haplotype co-segregating with the disorder is boxed. Linkage analysis and genotyping were done essentially as previously described.1 Genome-wide screening was carried out with 382 microsatellite markers covering all autosomal chromosomes, with an average interval of 10 cM (ABI PRISM™ linkage mapping set, version 2.0). Fine …