Genetic aspects of ataxias in a cohort of Turkish patients.

Introduction: Ataxia is one of the clinical findings of the movement disorder disease group. Although there are many underlying etiological reasons, genetic etiology has an increasing significance thanks to the recently developing technology. The aim of this study is to present the variants detected in WES analysis excluding non-genetic causes, in patients with ataxia.

A female case of 5,10-methenyltetrahydrofolate synthetase deficiency with novel neuro-imaging abnormalities.

Background: Folate metabolism disorders can affect various organ systems, including the nervous system. 5,10-methenyltetrahydrofolate synthetase deficiency is a rare cerebral folate deficiency in which MTHFS activity is disrupted with low-normal cerebrospinal fluid (CSF) 5,10-methenyltetrahydrofolate levels, while peripheral folate levels are normal.

Case Report: We present here a female patient with developmental delay, microcephaly, hypotonia, nystagmus, and seizure in which a distinct brain MRI and CT showed restricted diffusion in the bilateral parietal and occipital lobes, and calcifications of the bilateral putamen, globus pallidus, and caudate nucleus, and the bilateral parietal and occipital lobes.

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.

Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs.

Neurodevelopment and Genetic Evaluation of Sotos Syndrome Cases with a Novel Mutation: a Single-Center Experience.

Sotos syndrome is a non-progressive neurological disease with overgrowing, increased bone age, and developmental retardation. The aim of this study is to evaluate the prenatal, natal, and postnatal clinical findings of patients with Sotos syndrome. Sixteen patients suspected to have Sotos syndrome with clinical findings were examined retrospectively, ranging in ages between 3 and 23.

The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.

Background: The genetic and epidemiological features of hereditary ataxias have been reported in several populations; however, Turkey is still unexplored. Due to high consanguinity, recessive ataxias are more common in Turkey than in Western European populations.

Objective: To identify the prevalence and genetic structure of hereditary ataxias in the Turkish population.

Genotype to Phenotype: Identification of Mucopolysaccharidosis Type IIIB (Sanfilippo's B) Case Using Whole Exome Sequencing.

Mucopolysaccharidosis type IIIB (Sanfilippo's B; OMIM no.: 252920) is a lysosomal storage disorder caused by defective degradation of heparan sulfate. The enzyme that has decreased function in this disease is α-N acetylglucosaminidase.

Genetic and Clinical Approach To Microcephaly: A 5-Year Single Center Experience.

Microcephaly is a dysmorphic feature characterized by small head size more than two standard deviations below the mean for age, sex, and ethnicity. There are several etiological factors ranging from environmental toxins or infections to genetic disorders. We report clinical, radiological, and molecular genetic investigations of patients with microcephaly from a single center over 5-year period.

Understanding What You Have Found: A Family With a Mutation in the Gene With Literature Review.

Introduction: Cerebellar dysplasia with cysts (CDC) is an imaging finding which is typically seen with in individuals with dystroglycanopathy. One of the diseases causing this condition is "Poretti-Boltshauser Syndrome; PTBHS" (OMIM #615960). Homozygous or compound heterozygous mutations in the gene cause this disease.

Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience.

The diagnosis of rare genetic diseases is one of the most difficult areas in medicine. Whole-exome sequencing (WES) technology makes it easier to diagnose these diseases. In addition, next-generation phenotyping can help to diagnose computer-based algorithms.

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.

Arthrogryposis is a clinical finding that is present either as a feature of a neuromuscular condition or as part of a systemic disease in over 400 Mendelian conditions. The underlying molecular etiology remains largely unknown because of genetic and phenotypic heterogeneity. We applied exome sequencing (ES) in a cohort of 89 families with the clinical sign of arthrogryposis.

Analysis of musculoskeletal dysmorphic abnormalities of 20 fetuses.

Objectives: This study aims to report rates of skeletal abnormalities and their risk factors in light of information obtained in a fetal autopsy series.

Patients And Methods: The study included 20 fetuses (11 males, 8 females and 1 ambiguous genitalia; mean age 19.3±4.

Coexisting urogenital anomaly and duodenal atresia in two atypical Holt-Oram syndrome.

Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder, characterized by upper limb dysplasia and congenital cardiac defect. We report two cases with HOS, first associated with renal agenesis, coronal hypospadias, urethral duplication and second associated with duodenal atresia and horseshoe kidney that have not been reported in English literature.

Infantile Type Sandhoff Disease with Striking Brain MRI Findings and a Novel Mutation.

Background: Sandhoff disease is an autosomal recessive disorder caused by β-hexosaminidase deficiency in which the ganglioside GM2 and other glycolipids accumulate intracellularly within lysosomes. This process results in progressive motor neuron manifestations, death from respiratory failure and infections in infantiles.

Case Report: This report presents a 22-month-old girl with infantile type Sandhoff disease that was hospitalized for generalized seizures and psychomotor retardation.

A rare case of 3C disease: Ritscher-Schinzel syndrome presenting with recurrent talipes equinovarus.

Introduction: Club foot (CF) is characterized by multiple deformities such as varus, adductus and internal rotation of the forefoot. It is well-known and a frequent congenital disorder. CF can concurrently be seen with several diseases but it can rarely manifest as a component of any other syndrome.

46,XX, der(15),t(Y;15)(q12;p11) karyotype in an azoospermic male.

We report on a Yq/15p translocation in a 23-year-old infertile male referred for Klinefelter Syndrome testing, who had azoospermia and bilateral small testes. Hormonal studies revealed hypergonadotropic hypogonadism. Conventional cytogenetic procedures giemsa trypsin giemsa (GTG) and high resolution banding (HRB) and molecular cytogenetic techniques Fluorescence In Situ Hybridization (FISH) performed on high-resolution lymphocyte chromosomes revealed the karyotype 46,XX, t(Y;15)(q12;p11).