Maturity onset diabetes of the young (MODY) is a rare form of diabetes mellitus typically seen in young adults that results from pancreatic beta-cell dysfunction. MODY4 is a rare subtype caused by a PDX1 mutation. In this case, we present a nonobese 26-year-old male with polyuria and polydipsia. Lab work showed a blood glucose of 511 mg/dL, no ketones or antibodies (insulin, islet cell, and glu...

Abstract Background The X-linked myotubular myopathy (XLMTM) is a rare congenital disease. Its main symptoms are hypotonia, dysmorphic facial features, respiratory failure, and feeding disorder. Case presentation This study reports on male patient from Neonatal Intensive Care Unit, who presented of myopathy. After eliminating many other possible causes, he was eventually proven to bear c.197C&g...

It is essential to analyze rare mutations in many fields of biomedical research. However, the detection of rare mutations is usually failed due to the interference of predominant wild-type DNA surrounded. Herein we describe a sensitive and facile method of detecting rare point mutation on the basis of allele-specific amplification in emulsion PCR. The identification and selective amplification ...

background hereditary hemochromatosis (hh) is a very rare disease in iran and reported cases are all negative for hfe mutation. we report a family affected by severe juvenile hemochromatosis (jh) with a detailed molecular study of the family members. methods we studied a pedigree with siblings affected by juvenile hh and followed them for 3 years. microsatellite and gene sequencing analysis was...

Background Non-syndromic hearing loss (NSHL) is assumed as one of the highly prevalent congenital defects in the world. In this regard, gap junction protein beta 2(GJB2), and gap junction protein beta 6(GJB6) mutations are considered as the leading congenital causes of deafness. The present study aimed to assess the prevalence of GJB2 and GJB6 mutations in NSHL cases. Materials and Methods This...

We examined a large consanguineous Druze family with McArdle disease for mutations in the glycogen myophosphorylase (PYGM) gene. All affected subjects were autozygous for a single G to A transition that abolishes the 5' consensus splice site in the first nucleotide of intron 14. The G to A transition is a rare mutation, with only one previous report in a single white subject heterozygous for th...

Objective We aimed to evaluate frequency and distribution MEFV gene mutation variants in patients with presumptive diagnosis of Familial Mediterranean Fever (FMF). Material Methods Patients who had undergone FMF targeted analysis between September 2018 2019 were retrospectively analyzed. Twenty-six distinct studied. Demographic clinical data study participants collected from patient charts hosp...