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View article: Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations
Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations Open
Objectives Mucolipidosis (ML) type II α/β (I-cell disease) and type III (Pseudo-Hurler polydystrophy) are rare autosomal recessive lysosomal storage disorders caused by mutations in the GNPTAB (ML III α/β) and GNPTG (ML III γ) genes, leadi…
View article: Transition from assigned sex at birth to individual gender identity in cases of differences of sex development
Transition from assigned sex at birth to individual gender identity in cases of differences of sex development Open
View article: Clinical Outcomes and Genetic Mutations in Turkish Patients with Type 1 Gaucher Disease: Insights from a Single-Center Study
Clinical Outcomes and Genetic Mutations in Turkish Patients with Type 1 Gaucher Disease: Insights from a Single-Center Study Open
Background: Gaucher disease (GD) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the GBA1 gene, leading to deficient β-glucocerebrosidase activity. This results in the accumulation of glucocerebroside in mac…
View article: Neonatal/infantile‐onset genetic epilepsies: The utility of genetic testing for molecular etiology‐specific diagnosis concerning therapeutic implications
Neonatal/infantile‐onset genetic epilepsies: The utility of genetic testing for molecular etiology‐specific diagnosis concerning therapeutic implications Open
Objective To evaluate the significance of genetic testing in neonatal‐ and infantile‐onset genetic epilepsies (NIGEP) for enhanced molecular diagnosis with management implications. Methods A single‐center cohort of 128 patients with NIGEP …
View article: Association of Helicobacter pylori-associated Duodenal Ulcer and Precancerous Findings with Toll-like Receptor-4 Asp299Gly and Toll-like Receptor-9 123T/C Polymorphism and Cag-A, Vac-A in Children
Association of Helicobacter pylori-associated Duodenal Ulcer and Precancerous Findings with Toll-like Receptor-4 Asp299Gly and Toll-like Receptor-9 123T/C Polymorphism and Cag-A, Vac-A in Children Open
Objective: We aim to show whether endoscopic, histopathological and precancerous findings in childhood Helicobacter pylori (H. pylori) infection are associated with some changes in the host immune system and some virulence factors of the b…
View article: Ocular Manifestations of Fabry Disease: Report from a Tertiary Eye Care Center in Türkiye
Ocular Manifestations of Fabry Disease: Report from a Tertiary Eye Care Center in Türkiye Open
To our knowledge, this study is the first to describe the ocular manifestations of FD in the Turkish population. Although cornea verticillata is considered a hallmark of FD, it was absent in approximately one-third of patients. Moreover, c…
View article: Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and Their Genotype-phenotype Correlation
Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and Their Genotype-phenotype Correlation Open
Genetic etiology was found in 38 (82.6%) of 46 families by targeted NGS analysis. Furthermore, nine new variants were identified in known OI genes which were classified as pathogenic by standard guidelines.
View article: Multinational experience with next-generation sequencing: opportunity to identify transthyretin cardiac amyloidosis and Fabry disease
Multinational experience with next-generation sequencing: opportunity to identify transthyretin cardiac amyloidosis and Fabry disease Open
The overall diagnostic yield of 24.7% indicates that the screening strategy effectively identified the most common forms of HCM and HCM phenocopies among geographically dispersed patients. The results underscore the importance of including…
View article: Evaluation of Coronavirus Disease 2019-Related Morbidity and Mortality in Lipodystrophy Patients During the Pandemic Period
Evaluation of Coronavirus Disease 2019-Related Morbidity and Mortality in Lipodystrophy Patients During the Pandemic Period Open
Objective: Coronavirus Disease 2019’s (COVID-19) impact on rare disease populations such as lipodystrophy syndromes is unknown. We assessed COVID-19 infection outcomes in lipodystrophy syndromes and aimed to investigate the effect of restr…
View article: Investigation of the molecular genetic causes of non-syndromic primary ovarian ınsufficiency by next generation sequencing analysis
Investigation of the molecular genetic causes of non-syndromic primary ovarian ınsufficiency by next generation sequencing analysis Open
Genetic panels based on next generation sequencing analysis technologies can be used to determine the molecular genetic diagnosis of POI, which has a highly heterogeneous genetic basis.
View article: Expanding the genotypic and phenotypic spectrum of the SPTBN4 gene mutation: A new variant and dysmorphology
Expanding the genotypic and phenotypic spectrum of the SPTBN4 gene mutation: A new variant and dysmorphology Open
Congenital hypotonia and neuropathy caused by SPTBN4 mutation are the core findings of a newly defined rare syndrome: Neurodevelopmental disorder with hypotonia, neuropathy, and deafness. Although hearing loss secondary to auditory neuropa…
View article: Clinical features of generalized lipodystrophy in Turkey: A cohort analysis
Clinical features of generalized lipodystrophy in Turkey: A cohort analysis Open
Aim To describe the Turkish generalized lipodystrophy (GL) cohort with the frequency of each complication and the death rate during the period of the follow‐up. Methods This study reports on 72 patients with GL (47 families) registered at …
View article: Genetic Variants Associated with Severe Hypertriglyceridemia: LPL, APOC2, APOA5, GPIHBP1, LMF1, and APOE
Genetic Variants Associated with Severe Hypertriglyceridemia: LPL, APOC2, APOA5, GPIHBP1, LMF1, and APOE Open
Accurate approach to HTG diagnosis is important for the prevention of pancreatitis and ASCVD. Evaluation of variants in primary HTG after excluding secondary causes may help provide a patient-centric precision treatment plan.
View article: Persistent moderate methylmalonic aciduria in a patient with methylmalonyl CoA epimerase deficiency
Persistent moderate methylmalonic aciduria in a patient with methylmalonyl CoA epimerase deficiency Open
Background. Methylmalonyl CoA epimerase (MCE) deficiency was first reported in 2006 and only a few cases have been reported so far. The clinical spectrum of MCE deficiency ranges from asymptomatic to lifethreatening metabolic decompensatio…
View article: Clinical spectrum of early onset “Mediterranean” (homozygous p.<scp>P131L</scp> mutation) mitochondrial neurogastrointestinal encephalomyopathy
Clinical spectrum of early onset “Mediterranean” (homozygous p.<span>P131L</span> mutation) mitochondrial neurogastrointestinal encephalomyopathy Open
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive mitochondrial disorder characterized by cumulative and progressive gastrointestinal and neurological findings. This retrospective observational study, …
View article: Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year
Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year Open
Congenital generalized lipodystrophy (CGL) is a rare, autosomal recessive disorder characterized by an almost complete absence of body fat. In CGL, patients may have hyperphagia due to leptin deficiency. Recombinant human leptin (metrelept…
View article: Medical students’ opinions on career planning course: evaluations of the relationship between course and faculty attributes and student characteristics
Medical students’ opinions on career planning course: evaluations of the relationship between course and faculty attributes and student characteristics Open
Objectives The Presidency of the Republic of Turkey Human Resources Office has stated that a Career Planning Course (CPC) should be implemented in higher education curricula by 2020. An institutional CPC consisting of 10-online sessions wa…
View article: Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective
Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective Open
View article: Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium Open
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 mu…
View article: Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in <b><i>ASPM</i></b> and <b><i>WDR62</i></b> Genes
Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in <b><i>ASPM</i></b> and <b><i>WDR62</i></b> Genes Open
Introduction: Autosomal recessive primary microcephaly (MCPH) is a disorder characterized by congenital microcephaly and intellectual disability without extra-central nervous system malformation. MCPH is a disease with hetero…
View article: Congenital Adrenal Hyperplasia with Compound Heterozygous I2 Splice and P453S Mutations
Congenital Adrenal Hyperplasia with Compound Heterozygous I2 Splice and P453S Mutations Open
Although the I2 splice mutation detected in our case was mostly associated with a salt-wasting form of CAH, it was thought that the other P453S mutation detected may explain the relatively good clinical course in our case.
View article: Determination of Cystic Fibrosis Mutation Frequency in Preterm and Term Neonates with Respiratory Tract Problems
Determination of Cystic Fibrosis Mutation Frequency in Preterm and Term Neonates with Respiratory Tract Problems Open
Cystic fibrosis (CF) is an autosomal recessive disease. The genetic transition occurs with CF transmembrane conductance regulator ( CFTR ) gene mutation. We aimed to determine the frequency of CF mutations and also new mutations in the CFT…
View article: Lipemia Retinalis Diagnosed Incidentally After Laser Photocoagulation Treatment for Retinopathy of Prematurity
Lipemia Retinalis Diagnosed Incidentally After Laser Photocoagulation Treatment for Retinopathy of Prematurity Open
A preterm infant who underwent bilateral laser photocoagulation for the treatment of stage 3 retinopathy of prematurity (ROP) is presented because she was incidentally diagnosed with grade 3 lipemia retinalis by dilated fundoscopy at post-…
View article: Çocukluk Çağı Tüberküloz Olgularında IL-12p40, IL-12R?1, IFN?R1, IFN?R2 Gen Mutasyonlarının Araştırılması
Çocukluk Çağı Tüberküloz Olgularında IL-12p40, IL-12R?1, IFN?R1, IFN?R2 Gen Mutasyonlarının Araştırılması Open
Objective: In the project titled "Investigation of IL-12p40, IL-12Rβ1, IFNɣR1, IFNɣR2 Gene Mutations in Childhood Tuberculosis Cases", IL-12p40, IL12 receptor β-subunit (IL-12Rβ1), IFNɣ receptor 1 (IL-12Rβ1), which are thought to be import…
View article: Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations
Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations Open
Our study expanded the mutation spectrum of the NAGLU gene thereby contributing to the improved genetic counselling of MPS IIIB patients. Confirming the literature, missense mutations were also found to be the most common NAGLU
View article: Gorlin Sendromlu olgularda saptanan üç yeni PTCH1 varyantı
Gorlin Sendromlu olgularda saptanan üç yeni PTCH1 varyantı Open
Amaç: Gorlin Sendromu (OMIM #109400), bazal hücreli karsinomalar (BHK), iskelet anomalileri ve çenede gözlenen çok sayıdaki kistlerle karakterize otozomal dominant kalıtımlı nadir bir hastalıktır. Gorlin Sendromunun %50-85’inden PTCH1 geni…
View article: Tetrahydrobiopterin deficiencies: Lesson from clinical experience
Tetrahydrobiopterin deficiencies: Lesson from clinical experience Open
Objectives The present study describes clinical, biochemical, molecular genetic data, current treatment strategies and follow‐up in nine patients with tetrahydrobiopterin (BH4) deficiency due to various inherited genetic defects. Methods W…
View article: A Mortal Complication in a Case with Mucopolysaccharidosis type I Following Hematopoietic Stem Cell Transplantation: Pulmonary Haemorrhage
A Mortal Complication in a Case with Mucopolysaccharidosis type I Following Hematopoietic Stem Cell Transplantation: Pulmonary Haemorrhage Open
Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease due to mutations within the gene IDUA encoding the “α-L-iduronidase”. The clinical manifestations concern multisystemic involvement. There are two disease modifying therap…
View article: A novel compound heterozygous variant in CYP19A1 resulting in aromatase deficiency with normal ovarian tissue
A novel compound heterozygous variant in CYP19A1 resulting in aromatase deficiency with normal ovarian tissue Open
Background. Aromatase deficiency leading to virilization in mother and female fetuses during pregnancy is a rare disease. It is characterized by impaired estrogen production, increased gonadotropins, and ovarian cysts. Case. Herein, we rep…
View article: Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in <i>POLR3A</i>, <i>POLR3B</i>, and <i>POLR1C</i>
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in <i>POLR3A</i>, <i>POLR3B</i>, and <i>POLR1C</i> Open
Context 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and…