23 results match your criteria: "Intergen Genetics Centre[Affiliation]"
Pediatr Rheumatol Online J
January 2023
Department of Pediatric Rheumatology, Dr Sami Ulus Maternity and Child Health and Diseases Training and Research Hospital, Ankara, Turkey.
Background: Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome, caused by biallelic pathogenic mutations in the proteoglycan 4 (PRG4) gene, is characterized by early-onset camptodactyly, noninflammatory arthropathy, coxa vara deformity, and rarely, pericardial effusion. This syndrome can mimic juvenile idiopathic arthritis. CACP syndrome is caused by mutations in the proteoglycan 4 (PRG4) gene.
View Article and Find Full Text PDFClin Neurol Neurosurg
September 2022
Ankara University, Faculty of Medicine, Pediatric Metabolism, Ankara, Turkey. Electronic address:
Neuronal ceroid lipofuscinosis (CLN) 7 typically presents with motor and cognitive decline, seizures (myoclonus) and vision loss. Atypical manifestations such as, ataxia, Rett-like findings, microcephaly, personality disorders, extrapyramidal symptoms, stereotypical hand movements and autistic behaviors had been reported. A 7-year-old male patient referred with the diagnosis of sepsis and a medical history of afebrile seizure at the age of 3 years, and sleep problems and aggressive behavior at the age of 4 years.
View Article and Find Full Text PDFJ Pediatr Endocrinol Metab
April 2022
Intergen Genetics Centre, Ankara, Turkey.
Objectives: Niemann-Pick type C (NPC) disease is a rare progressive neurodegenerative condition that is characterized by the accumulation of cholesterol, glycosphingolipids, and sphingosine in lysosomes. Patients have various systemic and neurological findings depending on their age at onset. This disease is caused by the autosomal recessive transmission of mutations in the and genes; patients have mutations mainly in the gene (95%) and the majority of them are point mutations located in the exonic regions.
View Article and Find Full Text PDFBiomed Pap Med Fac Univ Palacky Olomouc Czech Repub
November 2021
Department of Pediatrics, University Hospital Brno, Brno, Czech Republic.
Background: Primary hypomagnesemia with secondary hypocalcemia (HSH) is a rare genetic disorder. Dysfunctional transient receptor potential melastatin 6 causes impaired intestinal absorption of magnesium, leading to low serum levels accompanied by hypocalcemia. Typical signs at initial manifestation are generalized seizures, tetany, and/or muscle spasms.
View Article and Find Full Text PDFTurk J Pediatr
August 2021
Department of Pediatric Metabolism, Çukurova University Faculty of Medicine, Adana, Turkey.
Background: Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare, treatable neurodegenerative disorder with a variable clinical presentation, caused by mutations in three different riboflavin transporter genes.
Case: An 11-year-old-boy presented with respiratory insufficiency and a rapidly progressive muscle weakness. He was the fifth child of a consanguineous marriage with a medical history of hearing loss.
Neuropediatrics
October 2021
Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana, Turkey.
Background: Glutaric aciduria type 1(GA-1) is an inherited cerebral organic aciduria. Untreated patients with GA-1 have a risk of acute encephalopathic crises during the first 6 years of life. In so far as GA-1 desperately does not exist in Turkish newborn screening (NBS) program, most patients in our study were late-diagnosed.
View Article and Find Full Text PDFTurk J Pediatr
August 2020
Intergen Genetics Centre, Ankara, Turkey.
Değerliyurt A, Gezgen Kesen G, Ceylaner S. Ataxia, tremor, intellectual disability: a case of STXBP1 encephalopathy with a new mutation. Turk J Pediatr 2019; 61: 757-759.
View Article and Find Full Text PDFTurk J Pediatr
July 2020
Departments of Neonatology, Ankara Pediatrics, Hematology- Oncology Training and Research Hospital.
Değerliyurt A, Gündüz M, Ceylaner S, Ünal Ö, Ünal S. Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis.
View Article and Find Full Text PDFIndian J Pediatr
March 2020
Department of Pediatrics, Dr. Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey.
J Obstet Gynaecol India
August 2019
1Obstetrics and Gynecology Unit, Kent Hospital, Kent Hastanesi, 8229/1 sok. No: 56 35630, Cigli, Izmir, Turkey.
Sudan J Paediatr
January 2019
Intergen Genetics Centre, Çankaya, Ankara, Turkey.
In this study, we prospectively evaluated demographic characteristics, clinical findings and pedigree patterns in 70 patients with familial epilepsy and/or intellectual disability (ID)/global developmental delay (GDD) and/or motor retardation but without specific etiologic diagnosis to determine genetic inheritance patterns by using at least a three-generation pedigree analysis. Mean age of the patients was 6.85 ± 3.
View Article and Find Full Text PDFJ Clin Res Pediatr Endocrinol
December 2017
Dokuz Eylül University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey.
Rabson-Mendenhall syndrome (RMS) is an autosomal recessive disorder due to mutations in the insulin receptor gene (INSR) which is mapped to 19p13.2. RMS is characterized by acanthosis nigricans, generalized lanugo, tooth and nail dysplasia, high nasal bridge, and growth retardation.
View Article and Find Full Text PDFTurk J Pediatr
December 2018
Medical Geneticist, Intergen Genetics Centre, Ankara, Turkey.
Kılıç-Yıldırım G, Durmuş-Aydoğdu S, Ceylaner S, Sass JO. Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis. Turk J Pediatr 2017; 59: 471-474.
View Article and Find Full Text PDFJ Pediatr Neurosci
January 2016
Intergen Genetics Centre, Ankara, Turkey.
Taiwan J Obstet Gynecol
August 2016
Intergen Genetics Centre, Ankara, Turkey.
J Pediatr Neurosci
March 2016
Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Cukurova University, Adana, Turkey.
Context: Congenital muscular dystrophy type 1A (MDC1A) is caused by mutations in the laminin α-2 gene encoding laminin-a2.
Aims: The purpose of this study is to determine clinical and genetic results in five Turkish patients with MDC1A.
Setting And Designs: Five children with MDC1A were retrospectively analyzed.
Am J Med Genet A
January 2016
Department of Medical Genetics, Ataturk University, Erzurum, Turkey.
Vici syndrome (OMIM 242840) is a rare syndrome and since its initial description by Vici et al. [1988], only 29 cases have been reported. We describe two brothers from healthy consanguineous Turkish parents with psychomotor delay, congenital bilateral cataracts, high palate, long philtrum, micrognathia, fair hair, and skin.
View Article and Find Full Text PDFBrain Dev
September 2015
Division of Pediatric Neurology, Department of Pediatrics, Cukurova University Faculty of Medicine, Adana, Turkey.
Background: Giant axonal neuropathy (GAN) is an autosomal recessive inherited progressive motor and sensory neuropathy with typical onset in early childhood. The disease is caused by GAN gene mutations on chromosome 16q24.1.
View Article and Find Full Text PDFAm J Med Genet A
February 2015
Intergen Genetics Centre, Ankara, Turkey.
Cardiofaciocutaneous (CFC) syndrome is a rare genetic disorder belonging to the group of RASopathies. It is typically characterized by congenital heart defects, short stature, dysmorphic craniofacial features, intellectual disability, failure to thrive, and ectodermal abnormalities such as hyperkeratosis and sparse, brittle, curly hair. CFC syndrome is caused by dominant mutations in one of the four genes BRAF, MEK1, MEK2, and KRAS.
View Article and Find Full Text PDFClin Chim Acta
January 2015
Department of Pediatric Endocrinology, School of Medicine, Dokuz Eylul University, Izmir, Turkey. Electronic address:
Deficiency of 17β-hydroxysteroid dehydrogenase type3 (17β-HSD3) isoenzyme which catalyzes the synthesis of testosterone from Δ4-androstenedione, is the cause of 46, XY disorders of sex development (DSD). 17β-HSD3 deficiency is a rare autosomal recessive disorder, which is caused by mutations in the HSD17B gene found on chromosome 9q22. Up to now, almost 33 mutations in the HSD17B3 gene have been reported.
View Article and Find Full Text PDFGenet Couns
January 2014
Department of Radiology, Mustafa Kemal University, Faculty of Medicine, Hatay, Turkey.
Oculoauriculo-vertebral spectrum, or Goldenhar syndrome, is characterized by varying degrees of prevalently unilateral underdevelopment of craniofacial structures (orbit, ear, and mandible) and spinal anomalies. We report a patient with unusual features diagnosed prenatally by 3D ultrasonography at 21 weeks' gestation without a family history. An early diagnosis was suggested by observation of a maxillary cleft-plate, multiple vertebral segmentation defects and hypoplastic thumb.
View Article and Find Full Text PDFJ Pediatr Adolesc Gynecol
April 2014
Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey.
Background: Steroidogenic factor-1 (SF-1) gene (NR5A1) mutations cause disorders of sexual development due to gonadal dysgenesis, particularly in 46,XY individuals. In cases exhibiting this mutation, the phenotype is heterogeneous, and it may vary within a spectrum ranging from complete female appearance to an infertile male. Virilization observed in some cases in the pubertal age group may lead to diagnostic difficulties.
View Article and Find Full Text PDFGenet Couns
September 2009
Intergen Genetics Centre, Ankara, Turkey.
We report here a female fetus with anencephaly, omphalocele and unilateral radial aplasia. The combination of two of these three malformations were reported in a number of patients diagnosed as Gershoni-Barush syndrome, ORR phenotype, VATER association, Schisis association, OEIS complex, Schinzel phocomelia syndrome and Acalvaria but they have not been reported all together in the same patient up to date. We hypothesize that, some or all these syndromes given above may be related etiologically.
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