No abstract

Multiple sclerosis (MS) is a chronic disease characterized by degeneration of the central nervous system (CNS). High levels of Neurofilament heavy chain (NEFH) in cerebrospinal fluid (CSF) is associated with MS. 40 MS patients and 40 controls genotyped by polymerase chain reaction (PCR) and Sanger sequencing. Genotypic and allelic distributions were compared between cases and controls. Fisher test was used to estimate the risk of MS associated with genotypes. We showed that NEFH, 1084-244G>A gene polymorphism, has no significant association with the susceptibility or severity of MS in Iranian patients (P = 0.737). Further prospective studies are required for confirmation.

The MARVELD2 gene which is located on the 5q13.2 may cause nonsyndromic hearing loss (NSHL) with autosomal recessive inherited pattern. So far c.1331+1G>A ( IVS4+1G>A ); NM_001038603.3, variant in deafness, has only reported previously in one Pakistani family in 2008 and it is reported for the first time in Iran and second time in the world. The case is a 21-year-old Iranian woman who has NSHL referred for genetic consultation, and her parents had a consanguineous marriage. To study the responsible genes for the mentioned disorder, whole exome sequencing (WES) was performed for the case. The result of WES analysis revealed a transition at the splice donor variant site of the MARVELD2 gene. The NGS result was confirmed by Sanger sequencing.