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.

Intramuscular hemangioma of the infraspinatus muscle: a rare presentation.

Intramuscular hemangiomas (IMH) are extremely rare, accounting for 0.8% of all hemangiomas. IMH must be included in the differential diagnosis of soft tissue masses, and unexplained muscular pain.

CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow.

Intellectual and developmental disabilities result from abnormal nervous system development. Over a 1,000 genes have been associated with intellectual and developmental disabilities, driving continued efforts toward dissecting variant functionality to enhance our understanding of the disease mechanism. This report identified two novel variants in in a cohort of four patients from two unrelated families.

Exploring genetic variants in congenital monosaccharide-disaccharide metabolism: Carrier ratios and phenotypic insights.

Objectives: Adverse food reactions, often underestimated, encompass congenital monosaccharide-disaccharide metabolism disorders, yielding diverse outcomes such as abdominal pain, diarrhea, bleeding disorders, and even death. This study retrospectively scrutinized genetic variants linked to these disorders in a cohort subjected to whole-exome sequence analysis (WES), determining carrier frequencies and genotype-phenotype correlations.

Methods: Data from 484 patients, were retrospectively analyzed using a gene panel (ALDOB, FBP1, GALE, GALK1, GALM, GALT, LCT, SLC2A2, SLC5A1, SI) for congenital monosaccharide-disaccharide metabolism disorders.

A case report of a patient with neurodevelopmental disorder with impaired speech and hyperkinetic movements: A biallelic variant in the ZNF142 gene.

Biallelic pathogenic variations in the zinc finger protein 142 (ZNF142) gene are associated with neurodevelopmental disorder with impaired speech and hyperkinetic movements (NEDISHM). This disorder is characterized by developmental delay, intellectual disability, speech delay, and movement disorders such as dystonia, tremor, ataxia, and chorea. Here, we report a patient who exhibited common neurological features and rarely reported brain MRI findings.

Evaluation of Smooth Muscle Myosin Heavy Chain Isoform Expressions in a Buried Penis.

Background: A buried penis (BP) is rare in which the penile body is retracted into the prepubic adipose tissue. This research focuses on differences in smooth muscle myosin heavy chain (SMMHC) isoform expressions in the dartos fascia.

Methods: A total of 82 children, 41 of whom had BPs, who applied for circumcision between May and November 2021, were included in the study.

Genetic influence on urinary vitamin D binding protein excretion and serum levels: a focus on rs4588 C>A polymorphism in the GC gene.

Introduction: Vitamin D binding protein (VDBP) plays a crucial role in vitamin D transport and metabolism. The rs4588-A polymorphism of the GC gene, encoding VDBP, has been associated with altered serum VDBP and 25-hydroxyvitamin D (25OHD) levels. However, the mechanisms underlying these effects remain unclear.

Anemia and thrombocytopenia due to a novel BRPF1 variant in a family from Çanakkale with intellectual disability and dysmorphic facies: Case report and review of the literature.

Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) (MIM#617333) is an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability (ID), and dysmorphic facial features due to pathogenic variations in the Bromodomain- and PHD Finger-Containing Protein (BRPF1) (MIM#602410) gene. Herein, we report the first Turkish patients with IDDDFP. Additionally, the patients had hematopoietic disorders such as anemia and thrombocytopenia, which have not been previously described in IDDDFP patients.

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.

A new entity in the NARS2 variant: the first reported case of type 1 diabetes mellitus associated with the phenotype.

NARS2 mutations are known to cause various clinical phenotypes such as nonsyndromic hearing loss, Leigh/Alpers syndrome, refractory epilepsy, developmental delay, intellectual disability and myopathy. We presented the first Turkish variant of NASR2 and added type 1 diabetes mellitus (DM), which was not previously described in the phenotype spectrum of this disease. A 4.

Copy number variations in patients with idiopathic recurrent pregnancy loss: an arrayCGH approach.

Background: It is not always possible to determine the causative basis of pregnancy losses and even today it has been reported that 50% of cases with recurrent pregnancy loss (RPL) have no reason to be detected. In our study, it is aimed to reveal the copy number variations (CNVs) of the genes which presumably have a potential effect in individuals with RPL and contribute to subsequent functional studies in the follow-up.

Methods: We retrospectively evaluated the array-comparative genomic hybridization (aCGH) data of cytogenetically 64 normal individuals (21 couples, 11 unrelated women, and 11 unrelated men) who had applied to our outpatient clinic from January 2016 to December 2017, for the history of idiopathic two or more RPL.

Melatonin receptor gene polymorphisms as a risk factor in patients with diabetic peripheral neuropathy.

Aims: Oxidative stress plays an important role in the pathogenesis of diabetic peripheral neuropathy (DPN). Melatonin is one of the most powerful endogenous antioxidants and has anti-inflammatory properties. We investigated how the gene polymorphism of melatonin differs in patients with DPN compared to an healthy control group.

A New Mutation, Hb A-Canakkale [δ10(A7)Ala→Val; : c.32C>T], and Other Well-Known δ Variants Identified in a Selected Cohort with Low Hb A Levels.

Hemoglobinopathies are the most common single-gene disorders, and β-thalassemia (β-thal) imposes a tremendous health burden on Turkey. Thus, premarital carrier screening is obligatory in Turkey, as it is in some other countries. As a result of this mandatory procedure, at routine clinical checkups, many individuals who had undergone premarital screening but did not have any clinical symptoms and/or hematological findings, have compulsorily been required to undergo further evaluation due to abnormal levels of hemoglobin (Hb) fractions (Hb A, Hb A and Hb F).

A New Case of Rare Microdeletion 10q22.3q23 along with Mosaic Klinefelter Syndrome Associated with Facial Dysmorphic Finding, Atrial Ventricular Septal Defect, and Motor Retardation.

The chromosome 10q22.3q23.2 deletion syndrome is characterized by craniofacial dysmorphic features, developmental delay, congenital heart defect, and hand/foot abnormalities.

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.

Prognostic Prediction of BRCA Mutations by F-FDG PET/CT SUV in Breast Cancer.

Objectives: This study aimed to investigate the prognostic prediction of germline BRCA1 and BRCA2 mutations by comparing the maximum standardized uptake value (SUV) obtained from fluoride-fluorodeoxyglucose positron emission tomography/computed tomography (F-FDG PET/CT), which is considered a prognostic factor in breast cancer (BC).

Methods: Retrospective interdisciplinary laboratory results of 92 patients with BC who had germline BRCA1 or BRCA2 mutation profiles and underwent F-FDG PET/CT were compared. Genotyping was made by next-generation sequencing, and PET/CT scans were re-evaluated.

The high frequency of chromosomal copy number variations and candidate genes in epilepsy patients.

Objective: Epilepsy is a chronic brain disease and is estimated to affect more than 50 million people worldwide.Epilepsy is a polygenic and multifactorial disease.Genetic causes play a major role in 40-60 % of all epilepsies.

Feasibility study on equine acellular pericardium matrix (APM): A new tool for breast reconstruction.

The advent of acellular dermal matrix (ADM) for lower pole coverage allows immediate reconstructions with improved aesthetic outcomes and faster recovery. This study describes for the first time, the use of a new acellular pericardium matrix (APM) in implant-based breast reconstruction and characterises its safety profile. Equity is a membrane with a natural cross-linked structure with many of the properties of ADMs, but improved resistance and reduced thickness.

Diagnostic Utility of Array Comparative Genomic Hybridization in Children with Neurological Diseases.

Introduction: We evaluated the contribution of array comparative genomic hybridization (aCGH) to the final diagnosis in children with neurocognitive disturbances or dysmorphic findings, but lacked a specific diagnosis.

Materials And Methods: Medical files of pediatric patients with neurocognitive disturbances who underwent aCGH analysis were reviewed retrospectively.

Results: Of 155 patients, 77 copy number variations were detected and 50% (39/77) were considered causative.

Evaluation inflammatory markers of hemogram parameters in primary ovarian insufficiency.

Objective: In most of primary ovarian insufficiency (POI) cases, etiologic factors have not been fully elucidated. Recent studies have revealed that inflammatory agents play an important role in the etiopathogenesis of POI. Therefore, the aim of this study was to investigate the role of inflammatory markers of hemogram parameters in POI.

Cryopreserved fascia lata allograft use in surgical facial reanimation: a retrospective study of seven cases.

Background: Facial palsy treatment comprises static and dynamic techniques. Among dynamic techniques, local temporalis transposition represents a reliable solution to achieve facial reanimation. The present study describes a modification of the temporalis tendon transfer using a cryopreserved fascia allograft.

Blau syndrome with a rare mutation in exon 9 of gene.

Blau syndrome is an autosomal dominant rare disease caused by mutations in gene. Less than 200 patients published with Blau Syndrome Worldwide. We reported a 41-year old female Turkish patient diagnosed as Blau syndrome.