Candidate locus analysis for PHACE syndrome

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Publication Type thesis
School or College School of Medicine
Department Pathology
Author Mitchell, Sheri Marie
Title Candidate locus analysis for PHACE syndrome
Date 2015-12
Description Posterior fossa malformations, large infantile hemangioma of the head neck or face, arterial cerebrovascular anomalies, cardiac anomalies, and eye anomalies define the acronym for PHACE syndrome. PHACE syndrome (OMIM no. 606519) is a neurocutaneous syndrome with unknown etiology and pathogenesis. We report on an individual with PHACE syndrome with a complete deletion of SLC35B4 in the 7q33 region. 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 26.5kb deletion approximately 80kb upstream of SLC35B4 with partial deletion of the AKR1B1 gene in the 7q33 region. 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.
Type Text
Publisher University of Utah
Subject MESH Neurocutaneous Syndromes; Dandy-Walker Syndrome; Eye Abnormalities; Aortic Coarctation; Intracranial Arterial Diseases; Comparative Genomic Hybridization; Abnormalities, Multiple; Cranial Fossa, Posterior; Sequence Deletion; DNA Copy Number Variations; Hemangioma, Cavernous; Genetic Association Studies; Nucleic Acid Amplification Techniques; Polymorphism, Genetic; Phenotype; Genotype; Genetic Predisposition to Disease
Dissertation Institution University of Utah
Dissertation Name Master of Science
Language eng
Relation is Version of Digital version of Candidate Locus Analysis for PHACE Syndrome
Rights Management Copyright © Sheri Marie Mitchell 2015
Format Medium application/pdf
Format Extent 468,944 bytes
Source Original in Marriott Library Special Collections
ARK ark:/87278/s6nk6pb9
Setname ir_etd
ID 197338
Reference URL https://collections.lib.utah.edu/ark:/87278/s6nk6pb9
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