Introduction: AUTOSOMAL RECESSIVE polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 (polycystic kidney and hepatic disease 1) gene on chromosome 6p12, a large gene spanning 470 kb of genomic DNA. So far, only micromutations in the 66 exons encoding the longest open reading frame (ORF) have been described, and account for about 80% of mutations. Its clinical spectrum is widely variable with most cases presenting in infancy. Most affected neonates die within the first few hours of life.Methods: At present study, we have analyzed the segregation of eight microsatellite markers from the ARPKD interval in one family with the severe phenotype.Results: Our data confirm linkage and refine the ARPKD region to a 3.8-cM interval, delimited by the markers D6S269, D6S465, D6S427, D6S436, D6S272, D6S466, D6S295 and D6S1714 and most common mutation, T36M. Taken together, these results suggest that, despite the wide variability in clinical phenotypes, there is a single ARPKD gene.Conclusion: These linkage data and the absence of genetic heterogeneity in this family tested to date have important implications for DNA based prenatal diagnosis as well as for the isolation of the ARPKD gene.

Background: AUTOSOMAL RECESSIVE polycystic kidney disease (ARPKD) is a heterogeneous inherited disorder most commonly seen in childhood. The presentation is usually a palpable large mass in the flank or abdomen appearing at infancy or birth, leading to electrolyte abnormalities, pulmonary hypoplasia, oligohydramnious and the Potter’s syndrome. The survival rate of this disease is 70%. Multiple mutations of the polycystic kidney and hepatic disease 1 (PKHD1) are known that can cause ARPKD. On the other hand, mutations inPKHD1 have also been identified in about 30% of children with congenital hepatic fibrosis (the Caroli’s syndrome) without any evidence of kidney involvement. Based on this evidence, not everyone withPKHD1 mutations will present with ARPKD. Recent studies have shown that nongenetic factors, including environmental exposures had a significant effect on manifestations of ARPKD. The present study aimed at investigating the possible link between ARPKD and its epidemiologic factors, hypothesizing that these epidemiologic conditions would influence the incidence of ARPKD.Objectives: The present study aimed at evaluating a possible link between the ARPKD and its epidemiologic factors.Methods: In this case-control study, children with ARPKD referred to Amirkabir hospital in Arak city, Iran, were compared with noninfected children. Examinations, interviews, and questionnaires were performed to collect data and the disease was diagnosed by a physician.Results: The results of this study showed no significant relationship between epidemiological factors such as age, place of residence for families, sex, family education/occupation/ income, body mass index, stunted growth, slow growth, good growth, milk intake, water intake, failure to thrive and ARPKD.Conclusions: Based on our findings, epidemiological factors did not have a significant effect on the occurrence of ARPKD.

Background: AUTOSOMAL RECESSIVE polycystic kidney disease is characterized by renal collecting duct cysts, congenital hepatic fibrosis (biliary dysgenesis) and AUTOSOMAL RECESSIVE pattern of inheritance.The disease usually manifests in infancy, and has a high mortality rate in the first year of life. Kidney involvement is always present and manifests as variable degrees of non-obstructive collecting duct ectasia, usually in bilateral and symmetrical fashion and interstitial fibrosis. Patients almost always have also hepatic involvement as congenital hepatic fibrosis (periportal fibrosis with anomaly and dilatation in intrahepatic biliary ducts) that can cause portal hypertension with esophageal varices, bleeding and hypersplenism. The relative degrees of kidney and liver involvement tend to be inverse: Children with severe renal disease usually have milder hepatic disease and vice versa. Case report: This paper presents a 23-month old female with progressive renal failure and hepatic involvement (portal hypertension, esophageal varices bleeding and hypersplenism), which has been reported rarely.

AUTOSOMAL RECESSIVE primary microcephaly; MCPH is a rare neurologically condition observed in new born at the birth. Most patients suffer from moderate to severe intellectual disability. In this review article, we introduce MCPH disorder; include all of the chromosomal locations, kind of MCPH genes and numbers of mutations, functional efficacy, how to identify the genes separately and diagnostic algorithm of articles and data base such as OMIM, HGMD. 23 locations genes (MCPH1-23) have been recognized causes primary microcephaly in different population, so far. Function of them is to correct orientation of mitosis spindles, duplication of DNA, organization and function of centrosome, transfer of vesicles, transcription regulation, response to DNA lesion, etc. According to investigations, MCPH in Iran and Pakistan population is common because of more consanguinity marriage. MCPH1 and MCPH5 genes are more common in Iran. Recent advances in molecular biological techniques and animal models have helped to identify the genetic cause of microcephaly and open up the horizons for researchers in the field, and also elucidating of the underlying molecular mechanisms will improve our understanding of the structure and function of the brain.

Introduction: Hereditary Hearing loss (HHL) affects one in 1000 – 2000 new burns and more than 50% of these cases, the loss has a genetic basis. About 70% of HHL is non – syndromic with AUTOSOMAL RECESSIVE forms accounting for ~85% of the genetic load. To date, more than 100 locus estimated for this kind of deafness. Different genes have been reported to be involved, but mutations in the connexin 26 gene (Cx26) have been established the basis of AUTOSOMAL RECESSIVE non-syndromic hearing loss. Materials & Methods: The aim of this project is to study the prevalence of connexin 26 mutations by using Amplification Refractory Mutation System ARMS/PCR for detection of 35 delG and then we analyzed all samples excluding 35 del G homozygote by DHPLC and Direct Sequencing. Finding: We screened 76 chromosomes (38 patient) for GJB2 mutations. Thirty two (42%) carry GJB2 mutations including 35 del G, W24X, R32H, R127H, 3170G>A. Among them, 35 delG has the highest frequency (84%). Polymorphism V153I was found in three chromosomes. Conclusion: According to our results, other loci and genes may be the major responsible for nonsyndromic deafness in this population.