Candidate locus analysis for PHACE syndrome. Am J Med Genet A 2012 Jun;158A(6):1363-7
Date
05/01/2012Pubmed ID
22544659Pubmed Central ID
PMC3356486DOI
10.1002/ajmg.a.35341Scopus ID
2-s2.0-84861224880 (requires institutional sign-in at Scopus site) 24 CitationsAbstract
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.
Author List
Mitchell S, Siegel DH, Shieh JT, Stevenson DA, Grimmer JF, Lewis T, Metry D, Frieden I, Blei F, Kayserili H, Drolet BA, Bayrak-Toydemir PMESH terms used to index this publication - Major topics in bold
Aldehyde ReductaseAortic Coarctation
Chromosome Deletion
Chromosomes, Human, Pair 7
DNA Copy Number Variations
Eye Abnormalities
Genetic Loci
Humans
Neurocutaneous Syndromes
Nucleotide Transport Proteins
