A Case of 22q11.2 Deletion Syndrome with Peters Anomaly, Congenital Glaucoma, and Heterozygous Mutation in CYP1B1

被引：3
|
作者：
Reis, Linda M. [1 ,2 ,3 ]
Tyler, Rebecca C. [1 ,2 ,3 ]
Zori, Roberto [4 ]
Burgess, Jennifer [4 ]
Mueller, Jennifer [4 ]
Semina, Elena V. [1 ,2 ,3 ,5 ]
机构：
[1] Med Coll Wisconsin, Dept Pediat, Milwaukee, WI 53226 USA
[2] Med Coll Wisconsin, Childrens Res Inst, Milwaukee, WI 53226 USA
[3] Childrens Hosp Wisconsin, Milwaukee, WI 53201 USA
[4] Univ Florida, Div Genet & Metab, Gainesville, FL USA
[5] Med Coll Wisconsin, Dept Cell Biol Neurobiol & Anat, Milwaukee, WI 53226 USA
来源：
OPHTHALMIC GENETICS | 2015年 / 36卷 / 01期
关键词：
22q11.2 deletion syndrome; congenital glaucoma; CYP1B1; peters anomaly; OPEN-ANGLE GLAUCOMA; CHROMOSOME; 22Q11.2; DIGEORGE-SYNDROME; OCULAR FINDINGS; GENE-MUTATIONS; TBX1; PATIENT; PITX2;
D O I：
10.3109/13816810.2013.835432
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We read with interest the recent publication by Tarlan and colleagues(1) describing a patient with 22q11.2 deletion syndrome and ocular features of right microphthalmia and left anterior segment dysgenesis. While anterior segment dysgenesis disorders are occasionally reported with 22q11.2 deletions,(2-5) this remains a rare association. We report here an 8-year-old patient with 22q11.2 deletion syndrome and bilateral Peters anomaly with congenital glaucoma; in addition, our patient was found to have a single heterozygous mutation in CYP1B1, c.83C>T, p.(Ser28Trp).
引用
收藏
页码：92 / 94
页数：3
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