Novel homozygous mutation in DYSF gene with limb-girdle muscular dystrophy type 2B through whole exome sequencing in Iran

Research Square (Research Square)(2023)

Cited 0|Views0
No score
Abstract
Abstract Limb-girdle muscular dystrophy (LGMD) is a type of genetically heterogeneous disorders. The goal of current training is discovering novel mutations or deletion in an Iranian family with limb-girdle muscular dystrophy type 2B patient by whole exome sequencing. Exome sequencing was completed, as well as complete physical examinations of the family. Then, in silico studies have been done to discovery the change that happened in the protein structure, in associated with the DMD phenotype. On chromosome 2p13.2, there was one new nonsense variant: c.6120G>A, p.(Trp2040Ter) in exon 54. These discoveries can developed genetic counseling of this family and others patients in the future.
More
Translated text
Key words
muscular dystrophy type 2b,dysf gene,novel homozygous mutation,homozygous mutation,limb-girdle
AI Read Science
Must-Reading Tree
Example
Generate MRT to find the research sequence of this paper
Chat Paper
Summary is being generated by the instructions you defined