title: A case of 22q11.2 deletion syndrome with Peters anomaly, congenital glaucoma, and heterozygous mutation in CYP1B1.
abstract: 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).
authors.affiliation: Department of Pediatrics and Children's Research Institute at the Medical College of Wisconsin and Children's Hospital of Wisconsin , Milwaukee, WI , USA .
authors.forename: Linda M
authors.initials: LM
authors.lastname: Reis
authors.forename: Rebecca C
authors.initials: RC
authors.lastname: Tyler
authors.forename: Roberto
authors.initials: R
authors.lastname: Zori
authors.forename: Jennifer
authors.initials: J
authors.lastname: Burgess
authors.forename: Jennifer
authors.initials: J
authors.lastname: Mueller
authors.forename: Elena V
authors.initials: EV
authors.lastname: Semina
mesh_terms: D000015:Abnormalities, Multiple; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D003316:Corneal Diseases / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000235:genetics*; D006801:Humans; D008297:Male; D008850:Microphthalmos / Q000235:genetics*
keywords: 22q11.2 deletion syndrome; CYP1B1; congenital glaucoma; peters anomaly
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