Phenylketonuria (PKU) is an inborn error of amino acid metabolism with an autosomal recessive inheritance caused in most cases by mutations in the phenylalanine hydroxylase (PAH) gene. PKU has wide allelic heterogeneity. Here we report a novel heterozygous substitution (c.1223G>T (p.Arg408Leu)) in the PAH gene in an Iranian PKU family. The patient was 19-yr-old female with diagnosis of moderate...

183 ABSTRACT: Mitochondrial diseases are a heterogeneous group of disorders that can affect multiple organs with varying severity. Symptoms may be acute or chronic with intermittent decompensation. In childhood-onset disease, there is often a history of global developmental delay, while in adulthood the past history may be unremarkable prior to initial presentation. The unique character of mito...

background: polycystic ovary syndrome (pcos) is a complex disease having both genetic and environmental components and candidate genes on obesity and insulin metabolism have been hypothesized to be involved in its etiology. objective: we examined the possible association of adiponectin and insulin receptor gene polymorphisms with pcos. materials and methods: a total of 186 women with pcos using...

Carrier screening is a term used to describe genetic testing that is performed on an individual who does not have any overt phenotype for a genetic disorder but may have one variant allele within a gene(s) associated with a diagnosis. Information about carrier screening should be provided to every pregnant woman. Carrier screening and counseling ideally should be performed before pregnancy beca...

BACKGROUND Recent developments in molecular genetics have made it possible to identify carriers of the cystic fibrosis (CF) mutation, regardless of family history, before they have an affected child. Using these techniques, population or 'community' carrier screening can offer informed reproductive choice to individuals and couples who would not otherwise know of their risk of having a CF child...

The identification of families at-risk for hereditary cancer is extremely important due to the prevention potential in those families. However, the number of Brazilian genetic services providing oncogenetic care is extremely low for the continental dimension of the country and its population. Therefore, at-risk patients do not receive appropriate assistance. This report describes the creation, ...

contribution to the project. Abstract This paper reports on the genetics clinic and examines the wider functions it provides for parents who have a child with learning disabilities that may be associated with an underlying genetic cause. It derives from an ethnographic study of one clinical genetics team within a UK clinical genetics service and their clinical caseload, specifically their cases...

Many genetic disorders do not manifest themselves until the adult years. Such disorders often involve multiple genetic factors interacting with multiple environmental factors, over time, to produce a phenotype. This paper reviews the modes of inheritance of genetic disorders and describes the types of genetic testing that are currently available. It offers clues that should lead physicians to s...

BACKGROUND To enable primary care medical practitioners to generate a range of possible service delivery models for genetic counselling services and critically assess their suitability. METHODS Modified nominal group technique using in primary care professional development workshops. RESULTS 37 general practitioners in Wales, United Kingdom too part in the nominal group process. The practit...