Clinical and molecular characterization of myotonia congenita using whole-exome sequencing in Egyptian patients.

Background: Myotonia Congenita (MC) is a rare disease classified into two major forms; Thomsen and Becker disease caused by mutations in the CLCN1 gene, which affects muscle excitability and encodes voltage-gated chloride channels (CLC-1). While, there are no data regarding the clinical and molecular characterization of myotonia in Egyptian patients.

Methods: Herein, we report seven Egyptian MC patients from six unrelated families.

The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy.

Several neurological disorders, neurodevelopmental disorders, and neurodegenerative disorders have a genetic element with various clinical presentations ranging from mild to severe presentation. Neurological disorders are rare multifactorial disorders characterized by dysfunction and degeneration of synapses, neurons, and glial cells which are essential for movement, coordination, muscle strength, sensation, and cognition. The cerebellum might be involved at any time, either during development and maturation or later in life.

Sialic acid and anti-ganglioside M1 antibodies are invaluable biomarkers correlated with the severity of autism spectrum disorder.

Background: Autism spectrum disorders (ASD) are devastating neurodevelopmental disorders that showed global increased prevalence. They are characterized by impairment of social communication and stereotyped patterns.

Objective: This study aimed at measuring the levels of total sialic acid (SA) and anti-ganglioside M1 (anti- GM1) IgG antibodies as essential biomarkers in a cohort of children with ASD to identify their diagnostic yield as well as their correlation with the severity of autistic behaviors.

Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene and Review of Literature.

Alopecia intellectual disability syndromes 4 (APMR4) is a very rare autosomal recessive condition caused by a mutation in the LSS gene present on chromosome 21. This syndrome has a clinical heterogeneity mainly exhibited with variable degrees of intellectual disability (ID) and congenital alopecia, as well. Eight families with 13 cases have been previously reported.

Turner syndrome in diverse populations.

Turner syndrome (TS) is a common multiple congenital anomaly syndrome resulting from complete or partial absence of the second X chromosome. In this study, we explore the phenotype of TS in diverse populations using clinical examination and facial analysis technology. Clinical data from 78 individuals and images from 108 individuals with TS from 19 different countries were analyzed.

The potential impact of COMT gene variants on dopamine regulation and phenotypic traits of ASD patients.

Catechol-O-methyltransferase (COMT) enzyme has a major role in the adjustment of catechol-dependent functions, for example, cognition, cardiac function, and pain processing. The pathogenesis of autism may be related to dysfunction in the midbrain dopaminergic system. Therefore, we aimed to clarify how COMT gene variants affect dopamine level, and its potential impact on phenotype traits of autistic patients.

Study of C677T variant of methylene tetrahydrofolate reductase gene in autistic spectrum disorder Egyptian children.

Background: Autism spectrum disorders (ASD) is a heterogeneous neurodevelopmental disease, various articles reported that dysfunctional folate-methionine pathway enzymes might assume a paramount part in the pathophysiology of autism. Methylene tetrahydrofolate reductase (MTHFR) is a basic catalyst for this pathway, also MTHFR gene C677T variant accounted as a risk factor of autism.

Objective: The present study aimed to investigate the association of MTHFR gene rs1801133(C677T) variant among Egyptian autistic children.