conclusions congenital hyperinsulinism can have different inheritance pattern. autosomal recessive inheritance is more common but less frequently autosomal dominant inheritance can be seen. it appears that mutations in abcc8 gene can show both autosomal recessive and autosomal dominant inheritance of the disease. pcr followed by sanger sequencing proved to be an efficient method for mutation de...

family studies suggest that there is a strong genetic component to the etiology of comitant strabismus. seven cases of a family in three consecutive generations found to have isolated comitant exotropia. this pattern of inheritance is highly suggestive of an autosomal-dominant mode with complete penetrance which is an unreported finding in this entity.   iranian journal of ophthalmology 200921(...

Neurofibromatosis is a genetic disease inherited in an autosomal, dominant manner. The course of von Recklinghausen’s varies from patient to patient. Most cases are mild and uncomplicated. diagnosis NF1 based on the criteria National Institutes Health (NIH). Type 2 neurofibromatosis inherited, most autosomal dominantly. abnormal allele can be either parent, with risk passing gene offspring bein...

Chronic diarrhea, juvenile cataracts, and tendon xanthomas, among other neurological systemic disturbances, characterize Cerebrotendinous xanthomatosis, an autosomal recessive lipid storage disease

heredity hearing loss (hl) is the most prevalent sensory disorder and most cases are non-syndromic. eighty percent of non-syndromic sensorineural deaf patients show an autosomal recessive pattern of inheritance. to date, 47 genes and 98 loci have been reported for this mode of inheritance. previous studies in our center showed the high prevalence of dfnb3 among iranian deaf families. pjvk (dfnb...

introduction: autosomal dominant polycystic kidney disease (adpkd) is one of the most common genetic kidney disorders with the incidence of 1 in 1,000 births. adpkd is genetically heterogeneous with two genes identified: pkd1 (16p13.3, 46 exons) and pkd2 (4q21, 15 exons). eighty five percent of the patients with adpkd have at least one mutation in the pkd1 gene. genetic studies have demonstrate...

this study aimed to investigate the contribution of four common dfnb (“dfn” for deafness and “b” for autosomal resessive locus) loci and gjb2 gene mutations (exon 2) in hearing impairment in individuals living in markazi and qom provinces of iran. forty consanguineous iranian families with at least three affected individuals in family or pedigree who suffer from an autosomal recessive non-syndr...