title: Candidate locus analysis for PHACE syndrome.
abstract: PHACE syndrome (OMIM #606519) is a neurocutaneous syndrome of unknown etiology and pathogenesis. We report on an individual with PHACE syndrome with a complete deletion of SLC35B4 on 7q33. In order to further analyze this region, SLC35B4 was sequenced for 33 individuals with PHACE syndrome and one parental set. Common polymorphisms with a possible haplotype but no disease causing mutation were identified. Sixteen of 33 samples of the PHACE syndrome patients were also analyzed for copy number variations using high-resolution oligo-comparative genomic hybridization (CGH) microarray. A second individual in this cohort had a 26.5 kb deletion approximately 80 kb upstream of SLC35B4 with partial deletion of the AKR1B1 on 7q33. The deletions observed on 7q33 are not likely the singular cause of PHACE syndrome; however, it is possible that this region provides a genetic susceptibility to phenotypic expression with other confounding genetic or environmental factors.
authors.affiliation: ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah 84108, USA.
authors.forename: Sheri
authors.initials: S
authors.lastname: Mitchell
authors.forename: Dawn H
authors.initials: DH
authors.lastname: Siegel
authors.forename: Joseph T C
authors.initials: JT
authors.lastname: Shieh
authors.forename: David A
authors.initials: DA
authors.lastname: Stevenson
authors.forename: J Fredrik
authors.initials: JF
authors.lastname: Grimmer
authors.forename: Tracey
authors.initials: T
authors.lastname: Lewis
authors.forename: Denise
authors.initials: D
authors.lastname: Metry
authors.forename: Ilona
authors.initials: I
authors.lastname: Frieden
authors.forename: Francine
authors.initials: F
authors.lastname: Blei
authors.forename: Hulya
authors.initials: H
authors.lastname: Kayserili
authors.forename: Beth A
authors.initials: BA
authors.lastname: Drolet
authors.forename: Pinar
authors.initials: P
authors.lastname: Bayrak-Toydemir
mesh_terms: D000449:Aldehyde Reductase / Q000235:genetics*; D001017:Aortic Coarctation / Q000175:diagnosis / Q000235:genetics*; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D056915:DNA Copy Number Variations; D005124:Eye Abnormalities / Q000175:diagnosis / Q000235:genetics*; D056426:Genetic Loci; D006801:Humans; D020752:Neurocutaneous Syndromes / Q000175:diagnosis / Q000235:genetics*; D033704:Nucleotide Transport Proteins / Q000235:genetics*
chemical_list: D033704:Nucleotide Transport Proteins; C503492:SLC35B4 protein, human; C484670:AKR1B1 protein, human; D000449:Aldehyde Reductase