title: Molecular Karyotyping of a Dysmorphic Girl from Saudi Arabia with CYP1B1-negative Primary Congenital Glaucoma.
abstract: OBJECTIVE
  To report the results of molecular karyotyping for a dysmorphic girl with CYP1B1-negative primary congenital glaucoma from Saudi Arabia, where CYPB1 mutations account for over 90% of cases of primary congenital glaucoma and the remaining cases are idiopathic.
  
  
  METHODS
  CYP1B1 sequencing in the affected child; high-resolution array comparative genomic hybridization (array CGH) of the affected child and both unaffected parents (Affymetrix Cytogenetics Whole-Genome 2.7M array; Affymetrix Inc., Santa Clara, CA, USA).
  
  
  RESULTS
  The girl did not harbor CYP1B1 mutation by Sanger sequencing. Array CGH revealed 2 de novo 7p heterozygous duplications (7p21 - 7p14, encompassing 223 genes, and 7p14-7p11.2, encompassing 225 genes) and a 4p homozygous microdeletion (4p14) encompassing one gene only, DTHD1.
  
  
  CONCLUSIONS
  The fact that this dysmorphic girl is Saudi Arabian and has CYP1B1-negative primary congenital glaucoma suggests that her glaucoma phenotype is related to her de novo copy number variation. Loss or gain of one or more of the genes encompassed in the identified chromosomal areas may be associated with primary congenital glaucoma and/or other observed phenotypic features.
authors.affiliation: a Ophthalmic Genetics Laboratory, Department of Ophthalmology , College of Medicine, King Saud University , Riyadh , Saudi Arabia .|b Department of Ophthalmology , College of Medicine, University of Florida , Jacksonville , FL , USA , and.
authors.forename: Khaled K
authors.initials: KK
authors.lastname: Abu-Amero
authors.affiliation: a Ophthalmic Genetics Laboratory, Department of Ophthalmology , College of Medicine, King Saud University , Riyadh , Saudi Arabia .
authors.forename: Altaf A
authors.initials: AA
authors.lastname: Kondkar
authors.affiliation: c Division of Pediatric Ophthalmology , King Khaled Eye Specialist Hospital , Riyadh , Saudi Arabia.
authors.forename: Arif O
authors.initials: AO
authors.lastname: Khan
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D058674:Chromosome Duplication / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D065633:Cytochrome P-450 CYP1B1 / Q000235:genetics*; D056915:DNA Copy Number Variations; D005260:Female; D006801:Humans; D006871:Hydrophthalmos / Q000235:genetics*; D007223:Infant; D007621:Karyotyping; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012529:Saudi Arabia
chemical_list: D065633:Cytochrome P-450 CYP1B1
keywords: Array comparative genomic hybridization; CYP1B1; primary congenital glaucoma