A homozygous variant in ARHGAP39 is associated with lethal cerebellar vermis hypoplasia in a consanguineous Saudi family.

Cerebellar vermis hypoplasia refers to a varying degree of incomplete development of the cerebellum and vermis. A Saudi family with four affected individuals with cerebellar vermis hypoplasia, facial dysmorphology, visual impairment, skeletal, and cardiac abnormalities was ascertained in this study. Three out of four patients could not survive longer and had died in early infancy.

Exome Sequence Analysis to Characterize Undiagnosed Family Segregating Motor Impairment and Dystonia.

: Hypermanganesemia with dystonia 1 (HMNDYT1) is a rare genetic disorder characterized by elevated blood manganese levels. This condition is associated with polycythemia, motor neurodegeneration with extrapyramidal features, and hepatic dysfunction, which can progress to cirrhosis in some patients. : In this study, a consanguineous Saudi family with two affected individuals exhibiting symptoms of severe motor impairment, spastic paraparesis, postural instability, and dystonia was studied.

First Cousin Marriages and the Risk of Childhood-Onset Vitiligo: Exploring the Genetic Background: A Cross-Sectional Study.

Background: Vitiligo, a condition characterized by depigmented skin, has been observed to have a higher incidence in patients with a family history of the disease. This study investigates the relationship between parental consanguinity, family medical history, and the onset of childhood vitiligo, hypothesizing that genetic factors play a significant role.

Methods: A cross-sectional study was conducted involving 382 people diagnosed with vitiligo in Saudi Arabia.

Identification of Novel and Recurrent Variants in , , and Genes in Families with Metabolic Disorders in Saudi Arabia.

Inherited metabolic disorders (IMDs) are a group of genetic disorders characterized by defects in enzymes or transport proteins involved in metabolic processes. These defects result in an abnormal accumulation of metabolites and thus interfere with the body's metabolism. A variety of IMDs exist and differential diagnosis is often challenging.

Loss-of-function variant in spermidine/spermine N1-acetyl transferase like 1 (SATL1) gene as an underlying cause of autism spectrum disorder.

Autism spectrum disorder (ASD) is a complicated, lifelong neurodevelopmental disorder affecting verbal and non-verbal communication and social interactions. ASD signs and symptoms appear early in development before the age of 3 years. It is unlikely for a person to acquire autism after a period of normal development.

Controlled drug release contenders comprising starch/poly(allylamine hydrochloride) biodegradable composite films.

The blending of natural polysaccharides with synthetic polymers has attracted much attention in drug delivery models owing to their remarkable biodegradable and biocompatible characteristics. This study focuses on the facile preparation of a sequence of composite films having Starch/Poly(allylamine hydrochloride) (ST/PAH) in different compositions to propose a novel drug delivery system (DDS). ST/PAH blend films were developed and characterized.

Hematopoietic stem cell transplant does not prevent neurological deterioration in infants with Farber disease: Case report and literature review.

Farber disease (FD) is an inherited autosomal recessive disorder of lipid metabolism. The hallmark of the disease is systemic accumulation of ceramide due to lysosomal acid ceramidase deficiency. The involvement of the central nervous system is critical in this disorder leading to rapid deterioration and death within a few years after birth.

Sex hormone binding globulin as a valuable biochemical marker in predicting gestational diabetes mellitus.

Background: Circulating Sex hormone binding globulin (SHBG) levels are inversely associated with insulin resistance. This study was conducted to compare maternal serum SHBG level between pregnant women with normal glucose tolerance and those with gestational diabetes (GDM) and to investigate the roll of SHBG in GDM diagnosis.

Methods: This was a case controlled study of 90 pregnant women, 45 women with GDM and 45 matched controls, attending obstetrics clinic at Ohud Hospital, Madina, Saudi Arabia between April 2014 and March 2015.

Systemic ceramide accumulation leads to severe and varied pathological consequences.

Farber disease (FD) is a severe inherited disorder of lipid metabolism characterized by deficient lysosomal acid ceramidase (ACDase) activity, resulting in ceramide accumulation. Ceramide and metabolites have roles in cell apoptosis and proliferation. We introduced a single-nucleotide mutation identified in human FD patients into the murine Asah1 gene to generate the first model of systemic ACDase deficiency.