Hearing loss (HL) is the most common sensory defect. Various genetic as well as environmental factors have been shown to contribute in it. More than 100 loci have been recognized to cause autosomal recessive nonsyndromic hearing loss (ARNSHL). Here, we report a 6-year old female patient with bilateral pre-lingual HL in whom a mutation has been identified in TRIOBP gene (c.6362C>T, S2121L). In s...

Background: Epigenetic modifications, such as methylation can occur in multiple myeloma. SMG1is an important gene involved in cell growth which defect in methylation of its promoter leads to reduction of cell apoptosis and uncontrolled proliferation. In this study, we identified the methylation status of the SMG1 gene promoter in patients with multiple myeloma. Methods: Methylation status of S...

We present the case of an infant admitted to our department for a rapid broad complex tachycardia and cardiovascular collapse. The patient was submitted genetic testing because conduction defect at baseline ECG family history gene mutation. A new SCN5A mutation variant found leading diagnosis sodium-channel dysfunction arrhythmia.

Background: CDKN2A, encoding two important tumor suppressor proteins p16 and p14, is a tumor suppressor gene. Mutations in this gene and subsequently the defect in p16 and p14 proteins lead to the downregulation of RB1/p53 and cancer malignancy. To identify the structural and functional effects of mutations, various powerful bioinformatics tools are available. The aim of this study is the ident...

Two previously described pedigrees with familial hyperproinsulinemia have elevated proinsulin conversion intermediates resulting from amino acid substitutions in the proinsulin molecule. In contrast, a third family with elevated levels of an apparently normal proinsulin molecule may have a defect in the converting process. To determine if the defect in this family lies in the insulin gene regio...

Premature Ovarian Failure (POF) defined as functional stop of ovaries before the age of 40. It is a common cause of infertility in women that characterized by primary or secondary amenorrhea, high gonadotropin levels and estrogen level declining in patients. Factors that reduce follicle or defect in the follicle growth stimulating mechanism defined as numerous complication factors that they can...

BACKGROUND Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways. Intracellular conversion of cobalamin to its two coenzymes, adenosylcobalamin in mitochondria and methylcobalamin in the cytoplasm, is necessary for the homeostasis of methylmalonic acid and homocysteine. Nine defects of intracellular cobalamin metabolism have been defined by means of somatic complementat...