Han Jonathan, Young Jonathan W, Frausto Ricardo F, Isenberg Sherwin J, Aldave Anthony J
The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA , Los Angeles , California.
Ophthalmic Genet. 2015 Jun;36(2):145-8. doi: 10.3109/13816810.2013.837187. Epub 2013 Sep 27.
The genetic basis of X-linked megalocornea (MGC1) was reported in 2012 to be caused by mutations in the CHRDL1 gene. We sought to confirm that mutations in CHRDL1 are associated with MGC1 in a previously unreported pedigree.
Slit lamp examination, corneal pachymetry, corneal topography and DNA collection for screening of the CHRDL1 gene were performed for members of an affected family.
Examination of a woman and her four sons, ranging in age between 3 and 15 years, demonstrated horizontal corneal diameters of 14 mm in three of the four sons and a normal corneal diameter of 12 mm in the mother and other son. Central corneal thickness in the individuals with enlarged corneal diameters averaged 474 microns, compared to 604 microns in their unaffected brother. Corneal topographic imaging demonstrated an average K value of 44.4 D in the affected individuals compared with 41.6 D in their unaffected sibling. Screening of the CHRDL1 gene demonstrated the novel hemizygous frameshift mutation c.167delC (p.(Pro56Leu*8)) in exon 3 in the affected individuals and in the heterozygous state in their mother. This mutation was not present in the unaffected brother or in unrelated controls.
We provide the initial confirmation that X-linked megalocornea is associated with mutations in the CHRDL1 gene.
2012年报道，X连锁大角膜病（MGC1）的遗传基础是由CHRDL1基因突变引起的。我们试图在一个先前未报道的家系中证实CHRDL1基因突变与MGC1有关。
对一个患病家族的成员进行裂隙灯检查、角膜测厚、角膜地形图检查及采集用于筛查CHRDL1基因的DNA。
对一名女性及其4个年龄在3至15岁之间的儿子进行检查，发现4个儿子中有3个的角膜水平直径为14毫米，母亲和另一个儿子的角膜直径正常，为12毫米。角膜直径增大者的中央角膜厚度平均为474微米，而其未患病的兄弟为604微米。角膜地形图成像显示，患病个体的平均K值为44.4 D，而其未患病的同胞为41.6 D。对CHRDL1基因的筛查显示，患病个体外显子3中有新的半合子移码突变c.167delC（p.(Pro56Leu*8)），其母亲为杂合状态。未患病的兄弟和无关对照中不存在该突变。
我们首次证实X连锁大角膜病与CHRDL1基因突变有关。
