A Case of 22q11.2 Deletion Syndrome with Peters Anomaly, Congenital Glaucoma, and Heterozygous Mutation in CYP1B1. (March 2015)

• Record Type: Journal Article
• Authors: Reis, Linda M.; Tyler, Rebecca C.; Zori, Roberto; Burgess, Jennifer; Mueller, Jennifer; Semina, Elena V.
• Is Part Of: Ophthalmic genetics. Volume 36:Number 1(2015:Mar.)
• Page Start: 92
• Page End: 94
• Publication Date: 2015-03
• Subjects: Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.3109/13816810.2013.835432
• Languages: English
• ISSNs: 1381-6810

Abstract

<abstract> <title>Abstract</title> <p>We read with interest the recent publication by Tarlan and colleagues<xref ref-type="bibr" rid="b1">1</xref> 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, <xref ref-type="bibr" rid="b2 b3 b4 b5">2–5</xref> 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 <italic>CYP1B1</italic>, c.83C &gt; T, p.(Ser28Trp).</p> </abstract>