Publications by authors named "L K Effat"
Article Synopsis
- The study investigates the molecular causes of congenital hydrocephalus, focusing on a specific gene associated with cases in males, especially those with agenesis of the corpus callosum.
- Six out of 25 patients/fetuses showed pathogenic gene variants, with variants mostly inherited from mothers, including novel and previously known types.
- The findings highlight various clinical presentations and outcomes, suggesting differences in prognosis based on the type of genetic variant.
Micro and Martsolf syndromes are rare clinically and genetically overlapping disorders caused by mutations in RAB3GAP1, RAB3GAP2, RAB18 and TBC1D20 genes. We describe 34 new patients, 27 with Micro and seven with Martsolf. Patients presented with the characteristic clinical manifestations of the two syndromes, including postnatal microcephaly, congenital cataracts, microphthalmia, optic atrophy, spasticity and intellectual disability.
View Article and Find Full Text PDFPCNT encodes a large coiled- protein localizing to pericentriolar material and is associated with microcephalic osteodysplastic primordial dwarfism type II syndrome (MOPD II). We report our experience of nine new patients from seven unrelated consanguineous Egyptian families with the distinctive clinical features of MOPD II in whom a customized NGS panel showed homozygous truncating variants of PCNT. The NGS panel results were validated thereafter using Sanger sequencing revealing three previously reported and three novel PCNT pathogenic variants.
View Article and Find Full Text PDFBackground: Genetic factors play important role in the development of type 2 diabetes and diabetic nephropathy. Endothelial nitric oxide synthase (eNOS) gene is responsible for the bioavailability of nitric oxide and endothelial function.
Aim: To assess the association of the endothelial nitric oxide synthase (eNOS) (T786C and G894T) single nucleotide polymorphisms with Egyptian type 2 diabetes mellitus and diabetic nephropathy.
Aim: The research was conducted to study 1188 A\C polymorphism of Interleukin (IL)-12B gene for C/C, A/C and A/A genotypes in families of Hepatitis C virus (HCV) infected patients in Egypt.
Methods: Three hundreds HCV patients, 860 family members and 100 healthy subjects were studied. All family members were screened for HCV antibodies by enzyme-linked immunosorbent assay (ELISA).