Limb-girdle Muscular Dystrophy with New Mutation in Sarcoglycan Beta Gene: A Case Report
Limb-girdle muscular dystrophies (LGMDs) are a large group of genetic diseases in which there is muscle weakness and they are heterogonous diseases. The following study conducted in September 2017 in Mashhad, northwest of southern Khorasan Province, Iran reports a four years girl of autosomal recessive LGMD with proximal weakness and myopathy patterns. We detected four new alternations in this patient not reported for our population. One of them was important clinically that exists as unreported homozygous deletion encompassing exon 2 of the Sarcoglycan Beta (SGCB) gene. The use of Next Generation Sequencing (NGS) in the diagnosis of rare genetic pathologies is becoming ever more widespread in clinical practice. We used the NGS method for the first time to analysis the mutation in this family.
2. Savarese M, Sarparanta J, Vihola A et al (2016). Increasing Role of Titin Mutations in Neuromuscular Disorders. J Neuromuscul Dis, 3(3):293-308.
3. Di Fruscio G, Garofalo A, Mutarelli M et al (2016). Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic? Eur J Hum Genet, 24(1):73-7.
4. Zatz M, de Paula F, Starling A, Vainzof M (2003). The 10 autosomal recessive limb-girdle muscular dystrophies. Neuromuscul Disord, 13(7-8):532-44.
5. Vissing J (2016). Limb girdle muscular dystrophies: classification, clinical spectrum and emerging therapies. Curr Opin Neurol, 29(5):635-41.
6. Woollard PM, Mehta NA, Vamathevan JJ et al (2011). The application of next-generation sequencing technologies to drug discovery and development. Drug Discov Today, 16(11-12):512-9.
7. Taber KAJ, Dickinson BD, Wilson M (2014). The promise and challenges of next-generation genome sequencing for clinical care. JAMA Intern Med, 174(2):275-80.
8. Bushby KM (1999). The limb-girdle muscular dystrophies—multiple genes, multiple mechanisms. Hum Mol Genet, 8(10):1875-82.
9. Nigro V, Aurino S, Piluso G. Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches. Curr Opin Neurol, 2011, 24.5: 429-436.
10. Semplicini C, Vissing J, Dahlqvist JR et al (2015). Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E. Neurology, 84(17):1772-81.