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Permanent link (DOI): https://doi.org/10.7939/R3V311

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Study of the molecular cause of anophthalmia in a consanguineous pedigree Open Access

Descriptions

Other title
Subject/Keyword
Homozygosity mapping
Anophthalmia
Copy number variation
Next generation sequencing
Type of item
Thesis
Degree grantor
University of Alberta
Author or creator
Khorshidi, Azam
Supervisor and department
Lehmann, Ordan (Ophthalmology and Medical Genetics)
Examining committee member and department
Waskiewicz, Andrew (Biological Sciences)
Allison, Ted (Biological Sciences)
Walter, Michael (Medical Genetics)
Department
Medical Sciences-Medical Genetics
Specialization

Date accepted
2012-04-18T11:10:41Z
Graduation date
2012-11
Degree
Master of Science
Degree level
Master's
Abstract
Anophthalmia is a genetically heterogeneous congenital disorder. By using homozygosity mapping in six individuals with anophthalmia from a consanguineous family, five homozygous regions more than one megabase (Mb) in size were identified, which together encompassed 18 Mb. Sequencing of high-priority candidate genes failed to identify the causative mutation. Alternatively, whole exome sequencing of one affected individual revealed a homozygous missense mutation (c.39T>A [p.Ala13Val]) in TNIP3, located on homozygous interval on chromosome 4q26-28.1. This mutation was not present in 140 control individuals, single-nucleotide polymorphism databases, or the 1000 Genomes database. There were also several other potential variants elsewhere in the genome which their pathogenesity could not be ruled out, indicating that in heterogeneous diseases a single exome sequencing data is not enough to isolate the pathogenic variant with high confidence. Exome sequencing of more individuals in this family hold the promise to identify mutant gene responsible for the anophthalmia phenotype.
Language
English
DOI
doi:10.7939/R3V311
Rights
Permission is hereby granted to the University of Alberta Libraries to reproduce single copies of this thesis and to lend or sell such copies for private, scholarly or scientific research purposes only. Where the thesis is converted to, or otherwise made available in digital form, the University of Alberta will advise potential users of the thesis of these terms. The author reserves all other publication and other rights in association with the copyright in the thesis and, except as herein before provided, neither the thesis nor any substantial portion thereof may be printed or otherwise reproduced in any material form whatsoever without the author's prior written permission.
Citation for previous publication
Azam Khorshidi, Laurie Russell, Steven Bamforth, Garry Drummond, Royce Johnson and Ordan J Lehmann. 2012 Ophthalmic Genetics. 1-9.

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