A Founder Allele in SGCG Combining Missense Variant and Multi-Exon Duplication in Turkish Patients With Sarcoglycanopathy.

Sarcoglycanopathies are autosomal recessive muscular dystrophies characterized by progressive muscle weakness and represent a major subset of limb-girdle muscular dystrophies (LGMDs). They result from pathogenic variants in sarcoglycan genes (SGCA, SGCB, SGCD, and SGCG), which encode subunits of a tetrameric transmembrane complex that stabilizes the dystrophin-associated glycoprotein complex. Among these, SGCG is commonly affected and is associated with LGMD2C/R5.

Kniest Dysplasia without Ocular and Auditory Abnormalities in a Boy of 12 Months.

Introduction: Kniest dysplasia is a rare skeletal disorder, characterized by mild dysmorphic features, cleft palate, short stature, short limbs, prominent joints, restricted joint mobility, hearing impairment, and ocular manifestations such as high-degree myopia, retinal detachment, and cataract. Typical radiological findings include platyspondyly, coronal clefts, and dumbbell-shaped long tubular bones.

Case Presentation: Herein, we report on an 8-month-old boy who was referred to the pediatric genetic department due to narrow thorax and short extremities.

Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.

Multilocus genomic variations (MGVs), defined as pathogenic variants in two or more independent loci, are increasingly recognised in individuals with complex clinical phenotypes, particularly in highly consanguineous populations. Recent advancements in technologies, including exome and whole-genome sequencing, have revolutionised the diagnostic landscape, facilitating the identification of MGVs. This retrospective study analysed the genetic data of 80 patients referred to our centre in Türkiye, each with at least two molecularly confirmed genetic diagnoses.

Kabuki Syndrome and Charcot-Marie-Tooth Disease Co-Occurrence: Unique Case with Novel Variant.

Introduction: Kabuki syndrome (KS) is a rare syndrome, characterized by dysmorphic features, congenital abnormalities, and developmental problems. The primary genetic causes are variants in the and genes. There are few KS patients with variants, especially in Turkey.

Expanding the Genetic and Phenotypic Spectrum of Mowat-Wilson Syndrome: A Study of 10 Turkish Patients With an Intrafamilial Recurrence Caused by First Intragenic Large Deletion.

Mowat-Wilson syndrome (MWS) is a complex disorder caused by heterozygous ZEB2 gene variations creating haploinsufficiency. The main clinical features are evolving facial dysmorphism, intellectual disability, eye and brain malformations, and various organ anomalies. Our study examines 10 Turkish patients, who had clinical diagnosis, underwent evaluation, clinical investigations, and genetic tests in multiple tertiary centers across Türkiye, and were molecularly diagnosed with MWS.

Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature.

Background: Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder that results in the abnormal development of structures derived from ectodermal tissue. This rare condition predominantly affects the hair, nails, eccrine glands, and teeth. While HED can be caused by various genes, the EDA, EDAR, EDARADD, and WNT10A genes account for approximately 90% of cases.

Re-evaluation of Genetic Variants in Parkinson's Disease Using Targeted Panel and Next-Generation Sequencing.

Parkinson's disease (PD) is a complex disorder with a significant genetic component. Genetic variations associated with PD play a crucial role in the disease's inheritance and prognosis. Currently, 31 genes have been linked to PD in the OMIM database, and the number of genes and genetic variations identified is steadily increasing.