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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. Copyright © 2012 Wiley Periodicals, Inc.


Sheri Mitchell, Dawn H Siegel, Joseph T C Shieh, David A Stevenson, J Fredrik Grimmer, Tracey Lewis, Denise Metry, Ilona Frieden, Francine Blei, Hulya Kayserili, Beth A Drolet, Pinar Bayrak-Toydemir. Candidate locus analysis for PHACE syndrome. American journal of medical genetics. Part A. 2012 Jun;158A(6):1363-7

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PMID: 22544659

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