Akademik Veri Yönetim Sistemi
14.Ulusal Tıbbi Genetik Kongresi “Uluslararası Katılımlı”, Antalya, Türkiye, 20 - 22 Kasım 2020, ss.72
The DYSF gene is located on chromosome 2p13, which spans a genomic region of more than 230 kbp and comprises 55 exons.
It encodes a transmembrane protein DYSF which has been linked to membrane repair, Ca2+ signaling, cell adhesion, and
angiogenesis. Mutations in the dysferlin gene are responsible for three main dystrophic phenotypes: Limb-girdle muscular
dystrophy type 2B (LGMD2B; MIM# 2536011, 2), Miyoshi myopathy (MM; MIM# 2541302) and Distal myopathy with anterior
tibialis onset (DMAT; MIM# 606768.3).
Here, we described a Turkish male asymptomatic patient who has incidental creatine kinase elevation in blood values (CPK:5193
U/L). He was 14 and the third child of parents who were third-degree related.
We performed Next Generation Sequencing as Hereditary Disorder Solution which includes 569 protein-coding genes exons and
exon-intron borders revealed a novel homozygous (c.3429 C>A (p.Tyr 1143*)) nonsense DYSF (NM_001130976) gene variant in
our patient. It creates a null allele in the DYSF gene where the loss of function is a known mechanism of disease. Computational
prediction tools DANN, EIGEN,FATHMM-MKL and MutationTaster (7) did pathogenic predictions for this variant and this variant
has been classified as “Pathogenic” according to the ACMG 2015 guideline for interpretation of sequence variants.