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Identifying the molecular cause of muscular dystrophy in consanguinous Iranian families using next generation sequencing
University of Skövde, School of Health Sciences.
2020 (English)Independent thesis Basic level (degree of Bachelor), 20 credits / 30 HE creditsStudent thesis
Abstract [en]

Limb girdle muscular dystrophies (LGMD) are a group of muscular dystrophies characterised by wastage of distal skeletal muscles, with patients’ walking ability often progressively weakening over time. The majority of LGMDs follow an autosomal recessive inheritance pattern. This thesis project analysed the exome data of three unrelated individuals from the Middle East who were born of consanguineous unions. The individuals presented with recessively inherited muscular dystrophies. The aim of this project was to identify the underlying cause of the muscular dystrophy using next generation sequencing. Exome analysis, filtering for rare variants predicted as damaging using in silico predictive tools SIFT, Polyphen-2, MutationTaster, CADD, and homozygosity mapping followed by literature research identified potential homozygous causal variants in dysferlin, DYSF (NM_003494.3) c.4820T>C [p.Ile1607Thr], Activating Transcription Factor 6 Beta, ATF6B (NM_001136153.1) c.1793A>C [p.His598Leu], and Fibulin 2, FBLN2 (NM_001004019.1) c.3539G>A [p.Arg1180His]. In order to substantiate the supporting evidence of pathogenicity for the novel variants identified in this project, co-segregation analysis must be performed. Further exome studies investigating the presence of damaging variants of these genes in LGMD families is required in order to establish a stronger association between the novel genes identified in this thesis and LGMD. Finally, future studies involving knockdown experiments of the novel genes in Danio rerio (Zebrafish) so as to observe its effect on muscle tissue is recommended.

Place, publisher, year, edition, pages
2020. , p. 60
National Category
Biomedical Laboratory Science/Technology
Identifiers
URN: urn:nbn:se:his:diva-18546OAI: oai:DiVA.org:his-18546DiVA, id: diva2:1442891
External cooperation
Dr. Yalda Jamshidi
Subject / course
Biomedicine/Medical Science
Educational program
Biomedicine - Study Programme
Supervisors
Examiners
Available from: 2020-06-18 Created: 2020-06-17 Last updated: 2020-06-18Bibliographically approved

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CiteExportLink to record
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