background: glucose-6-phosphate dehydrogenase (g6pd) deficiency is the most frequent genetic enzymatic disorder in hu­man, which is inherited as an x-linked gene. it encodes a housekeeping enzyme, which is vital for cell survival. accord­ing to previous investigations, mediterranean mutation (c563t) of g6pd gene is the most prevalent mutation in some prov­inces of iran and neighboring countries...

1. Molecular Medicine Research Center, Hormozgan University of Medical Sciences, Bandar Abbas, Iran 2. Dental Research Center, Faculty of Dentistry, Tehran University of Medical Sciences, Tehran, Iran 3. Orthodontic Department, Dental Branch, Islamic Azad University, Tehran, Iran 4. Molecular Immunology Research Center, Tehran University of Medical Sciences, Tehran, Iran 5. Nature of Gene Mutat...

hereditary inclusion body myopathy (hibm) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing. this myopathy is autosomal recessive and associated to upd-n-acetylglucosamine-2-epimerase/n-acetylmannosamine kinase (gne) gene mutations. in this study, we report a novel gne homozygous point mutation c.1834t>g that results in amino acid substitution of cysteine 6...

Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disease with variable symptoms, including neuropsychiatric manifestations. A 26-year-old man was reported with classic symptoms of WS and repetitive psychiatric hospitalizations and at least 16 suicidal attempts. The genetic study demonstrated a novel homozygous stop-codon mutation on the WFS1 gene. This special type of mutat...

Primary microcephaly (MCPH) is a genetic disorder in which affected individuals present with a head circumference 3 standard deviations (SDs) below the age- and sex-related mean and is accompanied by mental retardation without further associated malformations. Here we report a patient with sporadic MCPH from Northwest of Iran who was investigated for MCPH1 locus. Clinical examination and karyot...

  Objectives and Background: Mutation directed inactivation of the tumor suppressor gene p53 have been found incountries with high frequency for hepatocellular carcinomas (HCCs). Our goal in the present study was screening of the p53 gene in tumor tissues from HCC affected individuals in southwest Iran for putative mutations in exons 7 and 8 that are known as hot spot regions. Materials & Met...

Background: Nephronophthisis (NPHP) is a progressive tubulointestinal kidney condition that demonstrates an AR inheritance pattern. Up to now, more than 20 various genes have been detected for NPHP, with NPHP1 as the first one detected. X-prolyl aminopeptidase 3 (XPNPEP3) mutation is related to NPHP-like 1 nephropathy and late onset NPHP. Methods: The proband (index patient) had polyuria, polyd...