Title |
Candidate locus analysis for PHACE syndrome |
Publication Type |
thesis |
School or College |
School of Medicine |
Department |
Pathology |
Author |
Mitchell, Sheri Marie |
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 |
application/pdf |
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 |