A new mutation in TCAP gene causing limb girdle muscular dystrophy in a young patient

Background and Aim: Limb-Girdle Muscular Dystrophy type ۲ (LGMD۲) is a rare form of muscular dystrophies accounting for ۳% of patients with autosomal recessive LGMDs. Homozygous mutations in TCAP gene are responsible for development of LGMD۲. Affected patients may develop proximal and distal lower limb weakness and may become wheelchair bounded about ۱۸ years after disease onset. In the present report we will discuss a case of LGMD۲ in a young Iranian female patient diagnosed by whole exome sequencing (WES).Methods: A ۲۵ years old female patient presented with abnormal muscular activities and laboratorial testing showed elevated range of LDH and CPK levels . After taking an informed consent form, ۵ ml of peripheral venous blood was taken from patient and the DNA was extracted by salting out method. The sample was sent for WES by Illumina HiSeq ۲۰۰۰/۲۵۰۰ sequencer. The FASTQ files were analyzed SeamlessTM software. Variants with allele frequency lesser than ۱% and those variant which were considered to have high impacts were analyzed.Results: A homozygous mutation in TCAP gene (c.۱۴_۱۵del p.Glu۵AlafsTer۱۱) was detected. According to American collage of Medical Genetics (ACMG) criteria, the variant was likely Conclusion: Whole exome sequencing can help diagnosis of rare neuromuscular diseases including muscular dystrophies. The present report demonstrated a novel mutation in a causative gene for LGMD۲.

Keywords:

Limb-Girdle Muscular Dystrophy , Whole exome sequencing , Mutation