Person: GÜNEY, AHMET İLTER
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GÜNEY
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AHMET İLTER
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Publication Metadata only Characterization of brca genes’ variants in turkish hereditary breast and ovarian cancer (hboc) patients(2020-06-09) SÖYLEMEZ, MEHMET ALİ; GEÇKİNLİ, BİLGEN BİLGE; GÜNEY, AHMET İLTER; ARSLAN ATEŞ E., ALAVANDA C., TÜRKYILMAZ A., POLAT H., SÖYLEMEZ M. A., GEÇKİNLİ B. B., GÜNEY A. İ.Publication Metadata only A recurrent HPS1 gene mutation in a Hermansky-Pudlak patient with uncommon clinical presentation(2020-02-22) SÖYLEMEZ, MEHMET ALİ; GEÇKİNLİ, BİLGEN BİLGE; GÜNEY, AHMET İLTER; ATA, PINAR; ARMAN, AHMET; ALAVANDA C., ARSLAN ATEŞ E., POLAT H., İlker A., Yıldırım Ö., SÖYLEMEZ M. A., GEÇKİNLİ B. B., GÜNEY A. İ., ATA P., ARMAN A.Publication Metadata only ZBTB24 novel mutation identified in Turkish ICF syndrome patient(2020-02-22) SÖYLEMEZ, MEHMET ALİ; GEÇKİNLİ, BİLGEN BİLGE; GÜNEY, AHMET İLTER; ATA, PINAR; ARMAN, AHMET; İlker A., POLAT H., ALAVANDA C., Yıldırım Ö., ARSLAN ATEŞ E., SÖYLEMEZ M. A., GEÇKİNLİ B. B., GÜNEY A. İ., ATA P., ARMAN A.Publication Metadata only Schimke immuno-osseous dysplasia patient with early renal dysfunction harboring a novel homozygous mutation in the SMARCAL1 gene(2021-09-18) SÖYLEMEZ, MEHMET ALİ; GEÇKİNLİ, BİLGEN BİLGE; GÜNEY, AHMET İLTER; ATA, PINAR; ARMAN, AHMET; ALAVANDA C., Demir Ş., UĞUZDOĞAN F., POLAT H., ARSLAN ATEŞ E., SÖYLEMEZ M. A., GEÇKİNLİ B. B., GÜNEY A. İ., ATA P., ARMAN A.Main findings of this syndrome are steroid resistant nephrotic syndrome (SRNS), immunodeficiency and spondyloepiphyseal dysplasia (SED). Biallelic mutations in SMARCAL1 gene cause SIOD. SMARCAL1 encodes a conserved ATP-dependent chromatin remodeling protein which is a member of Sucrose Non-Fermenting 2(SNF2) family. Case: One-year-old female referred to our clinic because of having growth retardation and developmental delay. Her parents were from the same small village. She was delivered prematurely due of preeclampsia. In neonatal intensive care unit cardiac and renal anomalies were detected. Eruption of deciduous teeth were delayed. Fine hair, microcephaly, prominent forehead, malar hypoplasia, depressed nasal bridge, bulbous nasal tip, long philtrum, thin upper lip, everted lower lip, microdontia, anteverted ears, short neck and trunk, hyperpigmented macules on trunk, protruding abdomen, tapering fingers, brachydactyly were detected. She was diagnosed with SRNS. Skeletal survey showed platyspondyly, scoliosis, shallow acetabular fossae. No pathology was observed in the epiphyses. After DNA isolation from the peripheral blood, clinical exome sequencing were performed via next-generation-sequencing. Novel homozygous c.2423_2427+9delCCAGGGGTAAGAGA mutation in the SMARCAL1 gene(NM_001127207) was detected. According to ACMG criterias it was pathogenic(PVS1,PM2, PP3). Her parents were heterozygous. Discussion/ Conclusion: SIOD is characterized with short stature,SED,immune deficiency,SRNS and dysmorphic findings. SIOD had classified into severe and mild types. In severe patients, infections, cerebrovascular disease and renal phenotype present at an earlier age. Our patient had a severe phenotype as she carried a truncating mutation. This study reveals a novel mutation and contributes to the genotype-phenotype correlation for SIOD.Publication Metadata only Spink5 gen mutasyonu saptanan netherton sendrom'lu olgu(2020-01-11) SÖYLEMEZ, MEHMET ALİ; GEÇKİNLİ, BİLGEN BİLGE; GÜNEY, AHMET İLTER; ATA, PINAR; ARSLAN ATEŞ E., ALAVANDA C., ERTÜRK B., SİNGER R., Yıldırım Ö., POLAT H., SÖYLEMEZ M. A., GEÇKİNLİ B. B., GÜNEY A. İ., ATA P., et al.Publication Metadata only Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency(SPRINGER/PLENUM PUBLISHERS, 2022) ARMAN, AHMET; Turkyilmaz, Ayberk; Alavanda, Ceren; Ates, Esra Arslan; Geckinli, Bilgen Bilge; Polat, Hamza; Gokcu, Mehmet; Karakaya, Taner; Cebi, Alper Han; Soylemez, Mehmet Ali; Guney, Ahmet Ilter; Ata, Pinar; Arman, AhmetPurpose Premature ovarian insufficiency (POI) is a heterogeneous disorder characterized by the cessation of menstrual cycles before the age of 40 years due to the depletion or dysfunction of the ovarian follicles. POI is a highly heterogeneous disease in terms of etiology. The aim of this study is to reveal the genetic etiology in POI patients. Methods A total of 35 patients (mean age: 27.2 years) from 28 different families diagnosed with POI were included in the study. Karyotype, FMR1 premutation analysis, single nucleotide polymorphism (SNP) array, and whole-exome sequencing (WES) were conducted to determine the genetic etiology of patients. Results A total of 35 patients with POI were first evaluated by karyotype analysis, and chromosomal anomaly was detected in three (8.5%) and FMR1 premutation was detected in six patients (17%) from two different families. A total of 29 patients without FMR1 premutation were included in the SNP array analysis, and one patient had a 337-kb deletion in the chromosome 6q26 region including PARK2 gene, which was thought to be associated with POI. Twenty-nine cases included in SNP array analysis were evaluated simultaneously with WES analysis, and genetic variant was detected in 55.1% (16/29). Conclusion In the present study, rare novel variants were identified in genes known to be associated with POI, which contribute to the mutation spectrum. The effects of detected novel genes and variations on different pathways such as gonadal development, meiosis and DNA repair, or metabolism need to be investigated by experimental studies. Molecular etiology allows accurate genetic counseling to the patient and family as well as fertility planning.Publication Metadata only Duplication of 10q24.31 in a family with congenital nystagmus and split-hand/foot malformation(2021-09-18) SÖYLEMEZ, MEHMET ALİ; GEÇKİNLİ, BİLGEN BİLGE; GÜNEY, AHMET İLTER; ATA, PINAR; ARMAN, AHMET; ALAVANDA C., UĞUZDOĞAN F., Demir Ş., POLAT H., ARSLAN ATEŞ E., SÖYLEMEZ M. A., GEÇKİNLİ B. B., GÜNEY A. İ., ATA P., ARMAN A.Introduction: Split-hand/split-foot malformation (SHFM),also known as ectrodactyly,is a congenital limb malformation caused by absence of central rays. Phenotypic spectrum can range from a median cleft of the hand and/or foot to monodactyly. It occurs in 1/8500-1/25000 newborns. It can be isolated or with various syndromes. For isolated types seven loci were found responsible. However molecular mechanism was not elucidated in split-hand with congenital nystagmus,fundal changes,and cataracts syndrome (OMIM:183800), also known as KarschNeugebauer syndrome (KNS). Cases: Five-month-old female patient was referred to our clinic because of having SHFM. SHFM was detected by prenatal USG. Natal and postnatal histories were normal. Opththalmological consultation revealed congenital nystagmus,and strabismus. Her growth parameters were normal. Strabismus,nystagmus,epicanthus,upslanting palpebral fissures, flattened nasal root,anteverted nares,micrognathia,and monodactyly of four limbs were detected. Her mother had also similar phenotype. No additional anomaly was detected in both. A-CGH analysis revealed 419,9 kb heterozygous duplication in 10q24.31 containing LBX1, BTRC, POLL, FBXW4 genes. Segregation studies still continue. Discussion: Although SHFM3 is one of the most common types of SHFM, nystagmus had not been reported in any patient in the literature. On the other hand,SHFM and nystagmus are the key features in the KNS. Herein we report a family with KNS harboring the duplication of 10q24.31. To best of our knowledge this is the first report to illuminate the molecular mechanism of KNS. More cases and functional studies are needed to distinguish whether SHFM3 and KNS are same or different entity.Publication Metadata only Expanding the mutation spectrum of muscular dystrophies: A Turkish cohort(2020-06-09) SÖYLEMEZ, MEHMET ALİ; GEÇKİNLİ, BİLGEN BİLGE; GÜNEY, AHMET İLTER; ARMAN, AHMET; ALAVANDA C., POLAT H., İlker A., ARSLAN ATEŞ E., SÖYLEMEZ M. A., GEÇKİNLİ B. B., GÜNEY A. İ., ARMAN A.