Mental retardation (MR) is one of the most frequently found major genetic disorders around the world, affecting 1-3% of the people in the general population. The recent advancement in molecular biology and cytogenetic study has made possible the identification of new genes for a variety of genetic disorders including autosomal recessive MR. Recessive genetic disorders are common in Pakistan due...

A recommendation of: Emilie Tezenas, Tatiana Giraud, Amandine Veber, Sylvain Billiard The fate of recessive deleterious or overdominant mutations near mating-type loci under partial selfing https://doi.org/10.1101/2022.10.07.511119

Recessive and dominant solutions for the nonoscillatory half-linear difference equation are investigated. By using a uniqueness result for the zero-convergent solutions satisfying a suitable final condition, we prove that recessive solutions are the “smallest solutions in a neighborhood of infinity,” like in the linear case. Other asymptotic properties of recessive and dominant solutions are tr...

A single gene defect leads to differing degrees of renal and hepatic involvement, with very different phenotypes and clinical outcome within even one affected family. [2] Kidneys are bilaterally enlarged and contain large numbers of cysts throughout the organ, due to the dilatation and elongation of renal collecting ducts. At birth, the interstitium and the rest of the tubules are normal but th...

Palmoplantar keratoderma (PPK) is a heterogeneous group of disorders. Epidermolytic PPK is a well delineated autosomal dominant entity, but no recessive form is known. Here we report two sons of phenotypically normal, consanguineous, Arab parents with features suggestive of PPK. They presented with patchy eczematous skin lesions followed by PPK and raised serum levels of IgE. Skin biopsy from t...

A family is reported in which three boys, two full brothers and a half brother, presented with marked delay in motor milestones, severe limb and truncal ataxia, nystagmus, speech delay and moderate global retardation. Autosomal recessive and sex linked recessive forms of cerebellar hypoplasia are reviewed and it is suggested that this family may have a rare, if not unique, form of sex-linked ce...