A5058361313- Metabolism and Genetic Disorders
- Lysosomal Storage Disorders Research
- Mitochondrial Function and Pathology
- Connective tissue disorders research
- Lipid metabolism and biosynthesis
- RNA regulation and disease
- Genetic and Kidney Cyst Diseases
- Trace Elements in Health
- Nuclear Structure and Function
- Autoimmune and Inflammatory Disorders Research
- Genomics and Rare Diseases
- Hemoglobinopathies and Related Disorders
- Blood Coagulation and Thrombosis Mechanisms
- Genetic Syndromes and Imprinting
- Diet and metabolism studies
- Glycogen Storage Diseases and Myoclonus
- Porphyrin Metabolism and Disorders
- Folate and B Vitamins Research
- DNA Repair Mechanisms
- Glycosylation and Glycoproteins Research
- Family and Disability Support Research
- Liver Disease Diagnosis and Treatment
- Growth Hormone and Insulin-like Growth Factors
- Trypanosoma species research and implications
- Liver Disease and Transplantation
Ain Shams University
2014-2024
University of Graz
2024
Medical Genetics Center
2008-2022
Ain Shams University Hospital
2009-2021
Cairo University
2018
Children's Hospital
2009
University of Cologne
2008
Joubert syndrome (JBTS) is characterized by a specific brain malformation with various additional pathologies. It results from mutations in any one of at least 10 different genes, including NPHP1, which encodes nephrocystin-1. JBTS has been linked to dysfunction primary cilia, since the gene products known be associated disorder localize this evolutionarily ancient organelle. Here we report identification disease locus, JBTS12, KIF7 gene, an ortholog Drosophila kinesin Costal2,...
Cockayne syndrome (CS) is a rare, autosomal-recessive disorder characterized by microcephaly, impaired postnatal growth, and premature pathological aging. It has historically been considered DNA repair disorder; fibroblasts from classic patients often exhibit transcription-coupled nucleotide excision repair. Previous studies have largely restricted to case reports small series, no guidelines for care established.One hundred two study participants were identified through network of...
Consanguineous marriages have been practiced since the early existence of modern humans. Until now, consanguinity is widely in several global communities with variable rates. The present study was undertaken to analyze effect on different types genetic diseases and child morbidity mortality. Patients were grouped according errors into four groups: Group I: Chromosomal microdeletion syndromes. II: Single gene disorders. III: Multifactorial IV: Diseases etiologies. marriage highly significant...
Loeys-Dietz syndrome (LDS) is a recently described entity that has the triad of arterial tortuosity and aneurysms, hypertelorism, bifid uvula or cleft palate. Its neuroradiologic manifestations have not been well delineated. We sought to describe features LDS assess would warrant follow-up imaging.Two neuroradiologists retrospectively reviewed CT angiography (CTA), MR imaging, plain film studies related head neck in 25 patients ranging from 1 55 years age, all whom had positive genetic...
Consanguinity is the blood relationship that exists among individuals descend from a common ancestor. The objectives of study was to explore frequency and socio-economic determinants consanguinity in Egypt. carried out using cross-sectional approach which included 10,000 unselected couples. All couples were recruited prenatal, gynecologic, neonatal pediatric clinics as well vaccination centers three hospitals one Lower Egypt (Cairo) two Upper (Sohag Assuit). Consanguineous marriage still...
Background Combined retinal degeneration and sensorineural hearing impairment is mostly due to autosomal recessive Usher syndrome (USH1: congenital deafness, early retinitis pigmentosa (RP); USH2: progressive impairment, RP). Methods Sanger sequencing NGS of 112 genes (Usher syndrome, nonsyndromic overlapping conditions), MLPA, array-CGH were conducted in 138 patients clinically diagnosed with syndrome. Results A molecular diagnosis was achieved 97% both USH1 USH2 patients, biallelic...
In Egypt, Wilson disease seems to be under diagnosed and clinical data on large cohorts are limited. The aim of this study is highlight the clinical, laboratory genetic characteristics in our pediatric population as well report experience with both treatment options outcome.The included 77 patients from 50 unrelated families (62 were followed up for a mean period 58.9 ± 6.4 months 27 asymptomatic siblings). Data collected retrospectively by record analysis patient interviews. Diagnosis was...
Abstract To present our experience using a multiomic approach, which integrates genetic and biochemical testing as first-line diagnostic tool for patients with inherited metabolic disorders (IMDs). A cohort of 3720 from 62 countries was tested panel including 206 genes single nucleotide copy number variant (SNV/CNV) detection, followed by semi-automatic filtering reflex (25 assays). In 1389 (37%), diagnosis achieved. Within this cohort, the highest yield obtained Asia (57.5%, mainly...
Abstract Morbidity and mortality rates in patients with autosomal recessive, congenital generalized lipodystrophy type 4 (CGL4), an ultra‐rare disorder, remain unclear. We report on 30 females 16 males from 10 countries biallelic null variants CAVIN1 gene (mean age, 12 years; range, 2 months to 41 years). Hypertriglyceridemia was seen 79% (34/43), hepatic steatosis 82% (27/33) but diabetes mellitus only 21% (8/44). Myopathy elevated serum creatine kinase levels (346–3325 IU/L) affected all...
Abstract Background Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive disorder characterized by nonbullous congenital ichthyosiform erythroderma (NCIE) and an intracellular accumulation of triacylglycerol (TG) droplets in most tissues. The clinical phenotype involves multiple organs systems, including liver, eyes, ears, skeletal muscle central nervous system (CNS). Mutations ABHD5/CGI58 gene are associated with CDS. Methods Eight CDS patients belonging to six different families...
Determination of variant pathogenicity represents a major challenge in the era high-throughput sequencing.Erroneous categorization may result if variants affect genes that are fact dispensable.We demonstrate this also applies to rare, apparently unambiguous truncating mutations an established disease gene.By whole-exome sequencing (WES) consanguineous family with congenital non-syndromic deafness, we unexpectedly identified homozygous nonsense variant, p.Arg1066*, AHI1, gene associated...
Eighteen different sequence changes, including three novel alterations, were detected in GJB2, encoding connexin 26, 371 Turkish probands with non-syndromic sensorineural hearing loss. Two frequently mutations, 35delG and delE120, shown to have single origins based on the conserved genotypes of two closely linked microsatellite five nucleotide polymorphism markers. Carrier frequencies delE120 Egypt Turkic populations Near East provide insights about origin these mutations.
Alcohol dehydrogenase 1B (ADH1B) is a primate-specific enzyme which, uniquely among the ADH class 1 family, highly expressed both in adipose tissue and liver. Its expression reduced obesity increased by insulin stimulation. Interference with ADH1B has also been reported to impair adipocyte function. To better understand role of adipocytes, we used CRISPR/Cas9 delete human stem cells (ASC). Cells lacking failed differentiate into mature adipocytes manifested minimal triglyceride accumulation...
Down syndrome (DS) is the most common and best-known chromosomal disorder associated with several other pathologic conditions including immunodeficiency which makes a significant contribution to morbidity mortality. Various immunological theories observations explain predisposition of individuals DS various infections have been published, one increased apoptotic cells.The aim this study was identify effect apoptosis on both types cells specific immune response (T B lymphocytes) in children...
Gaucher disease is the most prevalent lysosomal storage diseases which results from inherited deficiency in glucocerebrosidase enzyme. Three main clinical forms have been described: type I non-neuropathic, II acute neuropathic and III subacute neuropathic. Although it panethnic disease, its presentation has some ethnic specific characteristics. In this work, we present characteristics as well our experience diagnosing managing a group of Egyptian patients with disease. The study included 48...
To evaluate the incidence of chromosomal abnormalities in couples who experience recurrent abortion and identify additional factors that may be predictive abortion, such as parental age unfavorable obstetric or abnormal semen analysis. Materials methods: The present study examined 125 had experienced abortion. All subjects provided a detailed personal medical history ancestral underwent physical examination. Women group biochemical testing pelvic ultrasound examinations, men Results: Among...
Mutations in PTRF encoding cavin-1 are responsible for congenital generalized lipodystrophy type 4 (CGL4) characterized by lipoatrophy, insulin resistance, dyslipidemia, and muscular dystrophy. Cavin-1 cooperates with caveolins to form the plasma membrane caveolae, which involved cellular trafficking signalling lipid turnover.We sought identify mutations patients CGL determine their impact on sensitivity, adipose differentiation, autophagy.We performed phenotyping studies molecular screening...
Background Hemophagocyticlymphohistiocytosis (HLH) is a spectrum of immune activation which could be genetically determined, or secondaryto an underlying illness. Our aim was to present the clinico-genetic aspects ofHLH among Egyptian children and evaluate patterns reactivation outcomewith illustrations overlap manifestations.
Gaucher disease is the most common lysosomal storage disorder due to deficiency of ß-glucocerebrosidase. Since introduction Ceredase in 1991, enzyme replacement therapy has been mainstay treatment with its major disadvantage long life dependency on biweekly IV therapy. It was more than a decade later when substrate reduction – an oral approved for disease. Future therapeutic modalities will include pharmacological chaperon and possibly gene The aim this review high light current future...