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Candidate locus analysis for PHACE syndrome. Am J Med Genet A 2012 Jun;158A(6):1363-7 PMID: 22544659 PMCID: PMC3356486

Pubmed ID





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 P


Dawn Siegel MD Associate Professor in the Dermatology department at Medical College of Wisconsin


2-s2.0-84861224880   13 Citations

MESH terms used to index this publication - Major topics in bold

Aldehyde Reductase
Aortic Coarctation
Chromosome Deletion
Chromosomes, Human, Pair 7
DNA Copy Number Variations
Eye Abnormalities
Genetic Loci
Neurocutaneous Syndromes
Nucleotide Transport Proteins
jenkins-FCD Prod-321 98992d628744e349846c2f62ac68f241d7e1ea70