Huntington's disease (HD) is a neurodegenerative disorder that, unlike most autosomal dominant disorders, is not being selected against. One explanation for the maintenance of the mutant HD allele is that it is transparent to natural selection because disease symptoms typically occur subsequent to an individual's peak reproductive years. While true, this observation does not explain the populat...

PURPOSE To describe a Jewish family of Libyan ancestry in which autosomal dominant congenital cataract segregates with an apparently balanced reciprocal chromosomal translocation. METHODS Detailed family history and clinical data were recorded. Cytogenetic studies were performed on 13 family members. RESULTS Embryonal cataracts cosegregated through three generations with a balanced chromoso...

A family was studied with ocular and sys­ temic anomalies that seem to represent a pre­ viously undefined syndrome. The hallmarks of this syndrome are accessory nasal eyelid tissue with secondary displacement of the lacrimal puncta from the inner canthi, telecanthus, masklike faciès, bulky nose, torsion dystonia, and mental retardation. The mother and three of five siblings manifest the syndrom...

Tuberous sclerosis complex is an autosomal dominant disorder characterized by skin manifestations and formation of multiple tumors in different organs, mainly in the central nervous system. Tuberous sclerosis is caused by the mutation of one of two tumor suppressor genes, TSC1 or TSC2. Currently, the development of novel techniques and great advances in high-throughput genetic analysis made mut...

Objective: Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disorder caused by mutations in sarcomeric proteins and characterized hypertrophy of the heart muscle. 
 Materials Methods: In present study, 21 patients with HCM some their parents were evaluated via next-generation sequencing (NGS) using a targeted panel 17 genes. Results: Pathogenic or likely pathogenic variants detec...

hemophagocytic lymphohistiocytosis (hlh) is an aggressive and potentially life-threatening disease and has to be considered in the differential diagnosis of many conditions. hlh comprises two different conditions that are difficult to differentiate; familial hemophagocytic lymphohistiocytosis (fhlh) or familial erythrophagocytic lymphohistiocytosis (fel), and secondary hemophagocytic syndromes ...

background pe5 is a member of the pe protein family whose precise function is yet to be understood. there are about 100 members of the pe family proteins in mycobacterium tuberculosis. these glycine- and alanine-rich proteins consist of proline-glutamate motifs at their n-termini and may be implicated in pathogenesis of the bacilli. objectives we aimed to clone and over-express the rv0285 codin...

anxiety comprises many clinical descriptions and phenotypes. a genetic predisposition to anxiety is undoubted; however, the nature and extent of that contribution is still unclear. extensive genetic studies of the serotonin (5-hydroxytryptamine, 5-ht) transporter (5-htt) gene have revealed how variation in gene expression can be correlated with anxiety phenotypes. complete genome-wide linkage s...

background :the cag pathogenicity island includes a number of genes, including cytotoxin-associated protein a (caga) and vacuolatingcytotoxin (vaca) genotypes, which are associated with bacterial virulence. although the role of caga and vaca in the virulence of helicobacter pylori (h. pylori) is well-established in epidemiological studies, the relationship between the caga and vaca genotypes in...

conclusions data reported here indicated that there is no specific genetic combination beyond the quantity of biofilm biomass in s. epidermidis. biofilm biomass seemed to be controlled by rnaiii expression level. further interest should be directed to biofilm dispersal since it seems that the key difference in biofilm biomass ability of s. epidermidis strains relates to factors regulating this ...