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

页码：92 / 94

页数：3

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