Atil Bisgin

MEDNIK syndrome with a frame shift causing mutation in AP1S1 gene and literature review of the clinical features

MEDNIK syndrome is an autosomal recessive rare disease as one of the most recently described copper metabolism disorder characterized by intellectual disability, ichthyosis, hearing loss, peripheral neuropathy, enteropathy and keratodermia. Here in, we reported a case presented with ichthyosis and intellectual disability with MEDNIK syndrome that confirmed by mutation analysis in a Turkish child. She was finally diagnosed with MEDNIK syndrome by clinical findings, which were confirmed by molecular genetic testing. Sequencing of AP1S1 gene showed a homozygous insertion c.364dupG (NM_001283.4), which is predicted to cause a frameshift of the reading frame (p.D122Gfs*18). To our knowledge, this is the first case of MEDNIK syndrome from Turkey. Diagnosis of MEDNIK syndrome is still challenging and we hope that this case will contribute to further understanding.

A Two-Month-Old Child with Vascular Ectasia: A Case Report Diagnosed by Molecular Karyotyping

Gastrointestinal angiodysplasia can be encountered in cases with aortic stenosis, inflammatory gastrointestinal conditions, von Willebrand disease or vascular damage, and degenerative changes. Predisposing factors have been described in four adults with vascular ectasia located in the stomach, duodenum, and the distal esophagus. Here, we report a 2-month-old infant with vascular ectasia in the proximal esophagus and diagnosed by molecular karyotyping. This is the first case of vascular ectasia in the proximal esophagus in a pediatric patient.

The Utility of Next-Generation Sequencing for Primary Immunodeficiency Disorders: Experience from a Clinical Diagnostic Laboratory

Introduction Primary immune deficiency disorders (PIDs) are a group of diseases with profound defects in immune cells. The traditional diagnostics have evolved from clinical evaluation, flow cytometry, western blotting, and Sanger sequencing to focusing on small groups of genes. However, this is not sufficient to confirm the suspicion of certain PIDs. Our innovative approach to diagnostics outlines the algorithm for PIDs and the clinical utility of immunophenotyping with a custom-designed multigene panel. Materials and Methods We have designed a diagnostic algorithm based on flow cytometry studies to classify the patients; then the selected multigene panel was sequenced. In silico analysis for mutations was carried out using SIFT, Polyphen-2, and MutationTaster. Results and Discussion The causative mutation was identified in 46% of PIDs. Based on these results, this new algorithm including immune phenotyping and NGS for PIDs was suggested for the clinical use. Conclusions This study provides a thorough validation of diagnostic algorithm and indicates that still the traditional methods can be used to collect significant information related to design of most current diagnostics. The benefits of such testing are for diagnosis and prevention including the prenatal and preimplantation diagnosis, prognosis, treatment, and research.

A novel mutation of ROBO3 in horizontal gaze palsy with progressive scoliosis

A novel mutation of ROBO3 in horizontal gaze palsy with progressive scoliosis Sevcan Tuğ Bozdoğan, Erdem Dinç, A. Ayça Sarı, Anıl Özgür & Atıl Bişgin To cite this article: Sevcan Tuğ Bozdoğan, Erdem Dinç, A. Ayça Sarı, Anıl Özgür & Atıl Bişgin (2016): A novel mutation of ROBO3 in horizontal gaze palsy with progressive scoliosis, Ophthalmic Genetics, DOI: 10.1080/13816810.2016.1188123 To link to this article: http://dx.doi.org/10.1080/13816810.2016.1188123

A Rare Double Aneuploidy Case (Down–Klinefelter)

Downs syndrome has its own dysmorphic findings and is accompanied by mental retardation and hypotonia. Klinefelters syndrome is a syndrome caused by a numerical abnormality that affects male physical and cognitive development. This case reports a unique finding of 48,XXY, + 21 and a current literature review. A 4-month-old male patient presented with typical clinical features of Downs syndrome with hypothyroidism, atrial septal defect, ventricular septal defect, and patent ductus arteriosus without any phenotypic signs of Klinefelters syndrome.

Familial hypertrophic cardiomyopathy: A case with a new mutation in the MYBPC3 gene

Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease with variable clinical features that is inherited as autosomal dominant with variable penetrance. Recent developments in genetics of hereditary cardiomyopathy have not only enlightened many points about pathogenesis, but have also provided great benefit to diagnostic approaches of clinicians. Heterozygous mutation of c3691-3692insTTCA in MYBPC3 gene was identified in a pediatric patient with diagnosis of hypertrophic cardiomyopathy at clinic. Hypertrophy was observed in sister and father of the patient in echocardiography screening, and it was subsequently determined that they also had same mutation. This mutation has not previously been defined and reported previously in the literature as cause of hypertrophic cardiomyopathy.

Serum soluble tumour necrosis factor related apoptosis-inducing ligand level and peripheral eosinophil count in patients with nasal polyposis.

BACKGROUND Nasal polyposis is one of the most common inflammatory pathologies of the nasal cavity. Eosinophilic inflammation plays an important role in the pathogenesis. This study aimed to investigate soluble tumour necrosis factor related apoptosis-inducing ligand levels and eosinophil count in nasal polyposis patients. METHODS The study was performed on 24 adult nasal polyposis patients and 24 age-matched healthy individuals. The patients had not received any medical or surgical treatment. Pre-operative computed tomography scans were assessed using the Lund-MacKay grading system, and soluble tumour necrosis factor related apoptosis-inducing ligand levels were measured with a sandwich enzyme-linked immunosorbent assay. RESULTS Compared with controls, eosinophil levels in nasal polyposis patients were increased (p = 0.024), but there was no significant difference in soluble tumour necrosis factor related apoptosis-inducing ligand levels (p = 0.529). The Lund-MacKay mean grading was 12.43 ± 6.9. There was no correlation between soluble tumour necrosis factor related apoptosis-inducing ligand level and Lund-MacKay grading and eosinophil count. CONCLUSION There was no relationship between soluble tumour necrosis factor related apoptosis-inducing ligand level and blood eosinophil or clinical markers; however, soluble tumour necrosis factor related apoptosis-inducing ligand level remains of interest for future studies.