congenital generalized lipodystrophies (cgls) are very rare autosomal recessive disorders which have four types.of the four cgl types, bscl2 (berardinelli–seip congenital lipodystrophy type 2) is the result of mutations in the bscl2/seipingene.bscl2 which is the most severe lipodystrophic phenotype is characterized by generalized lipodystrophy, overgrowth,acanthosisnigricans, hepatomegaly, insu...

Background: Cystic fibrosis (CF) is a common autosomal recessive disorder that affects many body systems and is produced by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CF is also the most frequently inherited disorder in the West. The aim of this study was to detect the mutations in the CFTR gene in two Iranian families with CF. Methods: After DNA extractio...

background: cystic fibrosis (cf) is a common autosomal recessive disorder that affects many body systems and is produced by mutations in the cystic fibrosis transmembrane conductance regulator (cftr) gene. cf is also the most frequently inherited disorder in the west. the aim of this study was to detect the mutations in the cftr gene in two iranian families with cf. methods: after dna extractio...

Objective(s): Non-syndromic sensorineural hearing loss (NSHL) is a common disorder affecting approximately 1 in 500 newborns. This type of hearing loss is extremely heterogeneous and includes over 100 loci. Mutations in the GJB2 gene have been implicated in about half of autosomal recessive NSHL (ARNSHL) cases, making this the most common cause of ARNSHL. For the latter form of deafness, most f...

objective(s): non-syndromic sensorineural hearing loss (nshl) is a common disorder affecting approximately 1 in 500 newborns. this type of hearing loss is extremely heterogeneous and includes over 100 loci. mutations in the gjb2 gene have been implicated in about half of autosomal recessive nshl (arnshl) cases, making this the most common cause of arnshl. for the latter form of deafness, most f...

Background: Long QT syndrome (LQTS) is characterized by the prolongation of QT interval, which results in syncope and sudden cardiac death in young people. KCNQ1 is the most common gene responsible for this syndrome. Methods: Molecular investigation was performed by DNA Sanger sequencing in Iranian families with a history of syncope. In silico examinations were performed for predicting the path...

OBJECTIVES Non-syndromic sensorineural hearing loss (NSHL) is a common disorder affecting approximately 1 in 500 newborns. This type of hearing loss is extremely heterogeneous and includes over 100 loci. Mutations in the GJB2 gene have been implicated in about half of autosomal recessive non-syndromic hearing loss (ARNSHL) cases, making this the most common cause of ARNSHL. For the latter form ...

Objective(s) Despite the enormous heterogeneity of genetic hearing loss, most non-syndromic hearing losses are caused by mutations in the GJB2 gene. We aimed to characterize the mutation profiles of 100 Iranian deaf patients that were under 10 years old. Materials and Methods Patients were tested with direct sequencing of entire coding region of the GJB2 gene. Results Eight known mutations...

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...