Background: Diseases have a genetic basis, wherein changes in the human deoxyribonucleic acid and variances in its activities, which the environment may influence, contribute to disease processes. The risk of developing a disease is higher for people with genetic susceptibility when other risk factors such as lifestyle and environmental factors are present besides genetic change. The Taif community's attitudes toward genomes and their awareness are not well documented. The study aimed to assess the knowledge and awareness about genomes among Taif residents. Methods: A cross-sectional study was conducted on 361 participants residing in Taif city, Saudi Arabia, using a pretested questionnaire. The first part of the questionnaire collected participants' sociodemographic information and the second part measured the awareness and knowledge related to genetics and diseases. Results: All responses were subjected to statistical analysis. Among the studied subjects, 6.6% of the participants demonstrated good knowledge of genetics and diseases and 45.7%... Continue Reading

Epilepsy is a common chronic neurological problem with a prevalence rate of 6.5 per 1,000 in Saudi Arabia. In the field of epilepsy genetics, the rapid pace of gene discovery has resulted in exciting advances. Clinical testing using comprehensive gene panels, exomes, or genomes is becoming more widely available, resulting in a higher diagnostic yield in early-onset epilepsies and enabling precision medicine approaches. The genetic screening techniques include comparative genomic hybridization, single-gene testing, chromosomal analysis, epilepsy panel testing, whole-exome sequencing (WES), and whole-genome sequencing. It is essential to know the classification of genetic epilepsies to choose the appropriate genetic test for its differential diagnosis. Although there have been various classifications reported by different groups, the most acceptable one is to classify them based on type of epilepsy, type of gene involvement, and age of onset of epilepsy. The diagnosis of genetic epilepsies helps the treating physician determine the prognosis, select... Continue Reading

Background: Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive inherited metabolic disorder caused by the fumerylacetoacetate hydrolase enzyme deficiency. It is characterized by liver dysfunction and/ or failure, renal tubular dysfunction. If left untreated it may lead to Fanconi syndrome and neurological crisis (porphyria-like crisis). Nitisinone is the recommended therapy for HT1 in combination with tyrosine and phenylalanine restricted diet. Case Presentation: In this report, we present 3 years and 8-months-old boy who was referred to the Metabolic Clinic after his cousin was diagnosed with HT1. His history was significant for pleural effusion at 8 months of age which contributed to pulmonary tuberculosis. His alpha-fetoprotein was checked (for no apparent reason) at one and a half years of age and was elevated. Upon evaluation at 3 years and 8 months at our facility, his succinylacetone was significantly elevated. Liver function tests and coagulation results were also mildly elevated. Liver... Continue Reading

Background: Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric aciduria II, is a rare autosomal recessively inherited disorder of inborn error of metabolism. It can mainly be presented in three phenotypes: severe neonatal onset with a dysmorphic feature, neonatal-onset without dysmorphic features, and less severe mild late-onset phenotype. Case presentation: A 34-year-old Saudi female previously healthy, Para 4, with severe metabolic acidosis, rhabdomyolysis intrapartum was presented to us. Her previous pregnancy history and deliveries were unremarkable; she has three healthy sons. Since the beginning of this pregnancy, she complained of fatigability and muscle weakness which was progressive with time. At 36 weeks of gestation, she was presented to the emergency room with labor pain. She deteriorated rapidly with significant drowsiness. Her arterial blood gas showed severe metabolic acidosis with a high anion gap and normal lactate. She was intubated and underwent emergency cesarean delivery under general anesthesia. After the... Continue Reading

Background: Isolated hypoparathyroidism comprises a set of heterogeneous inherited diseases associated with abnormal calcium metabolism exclusively due to parathyroid hormone (PTH) deficiency. Isolated hypoparathyroidism can be either sporadic or inherited. Genetic causes that impair the synthesis or secretion of PTH, such as calcium-sensing receptor and PTH defects, or defects in the development of the parathyroid gland [glial cell missing 2, (GCM2)], have been established as causes of familial isolated hypoparathyroidism. Transcription factor GCM2 is a crucial regulator of parathyroid gland homeostasis. Transmission of pathogenic variants encoding GCM2 occurs in an autosomal recessive or dominant manner. Case Presentation: Herein, we describe the case of a 12-year-old boy, born to consanguineous parents, who presented with abnormal movement during the first week of birth. Laboratory results revealed hypocalcemia, hyperphosphatemia, and low PTH levels. Genetic testing detected a novel homozygous variant in the GCM2 gene, c.391C>T (p.Arg131*). Although this variant has not been previously... Continue Reading

Background: Single gene mutations are important causes of glomerular disease in children. Of these genes, mutations in the FAT1 gene have been recently described in the literature as a cause of nephropathy in isolated form or multisystem involvement. The spectrum of renal disease associated with FAT1 gene mutations varies from asymptomatic proteinuria and hematuria to severe nephrotic syndrome and end-stage renal disease. Case Presentation: In this case report, we describe a 3-year-old child and two other family members with a novel frameshift homozygous mutation in the FAT1 gene consistent with the diagnosis of autosomal recessive colobomatous-microphthalmia, ptosis, nephropathy, and syndactyly syndrome with variable expression of the phenotype. Conclusion: This report adds to the genotype-phenotype correlation, highlighting the clinical importance of considering FAT1 gene defects as part of the differential diagnosis for congenital ptosis, syndactyly and nephropathy, especially with multiple affected family members. Continue Reading