Hala Bagabir

Myoferlin (MYOF) (OMIM#604603) is a type II membrane protein that belongs to the ferlin family, which is expressed in cardiac and skeletal muscles. This protein has seven C2 domains that mediate calcium-dependent membrane fusion events and membrane trafficking, while MYOF dysfunction is associated with muscular disorder. We are reporting a case from Saudi Arabia of an 18-month-old male patient with generalized hypotonia, which might be a floppy infant syndrome. In this study, whole exome sequencing (WES) was done, and a novel homozygous abnormal splice variant c.4982+1G>T, p.Val1661fs was identified in the MYOF gene. The results of WES were further validated by using Sanger sequencing; the proband showed homozygous mutation while both parents were heterozygous at this position. Implementing WES improves the screening and detection of novel and causative genetic variants and comprehends patient management. The results of this study, therefore, will add to the literature on the role of MYOF gene and any pathogenic variants that might lead to muscular dysfunction. Furthermore, this will establish a disease database, providing a groundwork for understanding the critical genomic regions.