Comprehensive review and outline of genotypes and phenotypes of Arboleda-Tham syndrome spectrum: insights from novel variants.

Background And Objective: Mutations in the KAT6A gene, which encodes a histone acetyltransferase, have been linked to an autosomal dominant neurodevelopmental disorder known as the Arboleda-Tham syndrome. The clinical symptoms of this disorder are nonspecific and pose challenges to accurately characterizing the condition based solely on these symptoms. This study aimed to establish a definitive diagnosis in three patients with intellectual disability and multiple congenital anomalies, and to elucidate the genotype-phenotype correlation based on the existing literature.

ALDH1A3-related congenital microphthalmia-8 due to a novel frameshift variant.

Microphthalmia (MCOP) is a group of rare developmental malformations of eye with often reduced size of the eyeball, leading to blindness. Affecting about 1 in 7000 live births, MCOP can occur due to either environmental or genetic factors. Isolated microphthalmia-8 (MCOP8) has been proved to be caused by autosomal recessive mutations of the ALDH1A3 gene (MIM*600463) encoding aldehyde dehydrogenase 1 family, member A3.

SARS-COV-2 RBD (Receptor binding domain) mutations and variants (A sectional-analytical study).

An essential step in SARS-CoV-2 infection is binding the receptor-binding domain (RBD) of the SARS-CoV-2 spike protein to the ACE2 receptor on the surface of host cells. Therefore, variation in this region can have crucial effects on clinical outcomes and the emergence of variants of concern (VOCs) and variants of interest (VOIs). In this cross-sectional descriptive study, 54 patients with SARS-COV-2 infection were enrolled.

Identification of a novel mutation in the gene associated with ataxia-oculomotor apraxia.

Hereditary ataxias are a clinically and genetically heterogeneous family of disorders defined by the inability to control gait and muscle coordination. Given the nonspecific symptoms of many hereditary ataxias, precise diagnosis relies on molecular genetic testing. To this end, we conducted whole-exome sequencing (WES) on a large consanguineous Iranian family with hereditary ataxia and oculomotor apraxia.

PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism.

Introduction: Atypical parkinsonism is a neurodegenerative disease that includes diverse neurological and psychiatric manifestations.

Objectives: We aimed to identify the disease-cauisng mutations in a consanguineous family featuring intellectual disability and parkinsonism.

Methods: Full phenotypic characterization, followed by genome-wide single-nucleotide polymorphism genotyping and whole-genome sequencing, was carried out in all available family members.

A Single Nucleotide Polymorphism in the FOXP3 Gene Associated with Behçet's Disease in an Iranian Population.

Unlabelled: Background: Behçet's Disease (BD) is a rare autoimmune disease that involves the dysfunction of regulatory T cells. FOXP3 is a key transcription factor in the development and function of T(reg) cells. Recent studies have shown SNPs in the FOXP3 contribute to the susceptibility to some autoimmune disorders.