Person: YEŞİL, GÖZDE
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Publication Metadata only A Rare Cause of Adrenal Insufficiency - Isolated ACTH Deficiency Due toTBX19Mutation: Long-Term Follow-Up of Two Cases and Review of the Literature(2020-06-01T00:00:00Z) Al, Asli Derya Kardelen; Poyrazoglu, Sukran; Aslanger, Ayca; YEŞİL, Gözde; Ceylaner, Serdar; Bas, Firdevs; Darendeliler, Feyza; YEŞİL, GÖZDEIntroduction:Isolated adrenocorticotropic hormone (ACTH) deficiency (IAD) is a rare cause of adrenal insufficiency and T-box pituitary restricted transcription factor (TBX19) mutations are responsible for two-thirds of the neonatal onset form of the disease. IAD presents with hypoglycemia and prolonged jaundice in the neonatal period.TBX19is important for both pro-opiomelanocortin (POMC) gene transcription and differentiation ofPOMC-expressing cells. We describe 2 patients, 1 with a reported and 1 with a novelTBX19mutation, and present information about the long-term follow-up of these patients.Case Presentation:Both patients had critical illnesses, recurrent hypoglycemia, convulsions, and neonatal hyperbilirubinemia. They also had low cortisol and ACTH levels, while other pituitary hormones were within the normal range. Pituitary imaging was normal. After hydrocortisone treatment, there was resolution of the hypoglycemia and the convulsions were controlled. Genetic studies of the patients revealed both had inherited a homozygous mutation of theTBX19gene. The first patient had an alteration of NM_005149.3:c.856C>T (p.R286*) and the second patient had a novel NM_005149.3:c.584C>T (p.T195I) mutation, analyzed by next-generation sequencing. The noteworthy findings of the patients at follow-up were: short stature, microcephaly, and decreased pubic hair in the first, and dysmorphic features, Chiari type 1 malformation, tall stature, and low bone mineral density (BMD) in the second.Conclusion:Congenital IAD can be life-threatening if it is not recognized and treated early.TBX19mutations should be considered in the differential diagnosis of IAD. Further cases or functional analyses are needed for genotype-phenotype correlations. Low BMD, dysmorphic features, Chiari type 1 malformation, and sparse pubic hair are some of the important features in these patients.Publication Metadata only Parents of ataxia-telangiectasia patients display a distinct cellular immune phenotype mimickingATM-mutated patients(2020-10-01T00:00:00Z) ÖĞÜLÜR, İSMAİL; Ertuzun, Tugce; KOCAMIŞ, BURCU; Kendir Demirkol, Yasemin; Uyar, Emel; KIYKIM, Ayça; Baser, Dilek; YEŞİL, Gözde; Akturk, Hacer; Somer, Ayper; Ozen, Ahmet; Karakoc-Aydiner, Elif; MÜFTÜOĞLU, Meltem; BARIŞ, SAFA; YEŞİL, GÖZDEBackground Heterozygous relatives of ataxia-telangiectasia (AT) patients are at an increased risk for certain AT-related manifestations. We also show that there is an increase of infection frequency in parents of AT patients. Thus, we hypothesized that the parents might exhibit immune alterations similar to their affected children. Methods Lymphocyte phenotyping to enumerate T- and B-cell subsets was performed. Functional analyses included in vitro quantified gamma-H2AX, poly (ADP-ribose) polymerase (PARP) and caspase-9 proteins. Chromosomal instability was determined by comet assay. Results We analyzed 20 AT patients (14F/6M), 31 parents (16F/15M), and 35 age-matched healthy controls. The AT patients- parents exhibited low frequency of naive CD4(+)T- (n = 14, 45%) and recent thymic emigrants (n = 11, 35%) in comparison with the age-matched healthy donors. Interestingly, parents with low naive T cells also demonstrated high rate of recurrent infections (9/14, 64%). In comparison with age-matched controls, parents who had recurrent infections and low naive T cells showed significantly higher baseline gamma-H2AX levels and H2O2-induced DNA damage as well as increased cleaved caspase-9 and PARP proteins. Conclusion Parents of AT patients could present with recurrent infections and display cellular defects that mimic AT patients. The observed immunological changes could be associated with increased DNA double-strand breaks.Publication Metadata only Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation-dependent probe amplification and genotype-phenotype correlation in 138 Turkish patients(2021-04-01T00:00:00Z) Gunes, Nilay; YEŞİL, Gözde; Geyik, Filiz; Kasap, Busra; Celkan, Tiraje; Kebudi, Rejin; TÜYSÜZ, Beyhan; YEŞİL, GÖZDEObjective To investigate the variant spectrum and genotype-phenotype correlations in a Turkish cohort with Neurofibromatosis Type-1 (NF1).Publication Open Access Familial Atypical Hemolytic Uremic Syndrome with Positive p.S1191L (c.3572C>T) Mutation on the CFH Gene: A Single-center Experience(2021-06-01T00:00:00Z) Dursun, Ersoy F.; Yesil, G.; Sasak, G.; Dursin, H.; YEŞİL, GÖZDEThe atypical hemolytic uremic syndrome (aHUS) is characterized by thrombocytopenia, microangiopathic hemolytic anemia and acute kidney injury (AKI), which can exhibit a poor prognosis. Complement factor H (CFH) gene mutations play a key role in this disease, which may be sporadic or familial. We studied 13 people from the same family, investigated for gene mutations of the familial aHUS after a family member presented to our emergency clinic with the aHUS and reported a family history of chronic renal failure. The p.S1191L mutation on the CFH gene was heterozygous in six people from the patient-s family with the aHUS. One of these family members is our patient with acute kidney injury, and the other two are followed at the Nephrology Clinic, Medeniyat University, Goztepe Training and Research Hospital, Istanbul, Turkey, due to chronic renal failure. The other three family members showed no evidence of renal failure. The index case had a history of six sibling deaths; three died of chronic renal failure. Plasmapheresis and fresh frozen plasma treatment were administered to our patient. When the patient showed no response to this treatment, eculizumab (ECZ) therapy was started. The study demonstrated that thorough family history should be taken in patients with the aHUS. These patients may have the familial type of the disease, and they should be screened genetically. Eculizumab should be the first choice in the treatment with plasmapheresis. It should be kept in mind that the use of ECZ as prophylaxis in posttransplant therapy is extremely important for preventing rejection.Publication Metadata only A Novel Mutation of HINT1 Gene in an Adolescent Female with Axonal Neuropathy and Neuromyotonia(2021-06-01T00:00:00Z) KARA, BÜLENT; Gul, Sedat; Gunes, Ayfer Sakarya; MÜLAYİM, SERAP; YEŞİL, Gözde; YEŞİL, GÖZDEHINT1 gene mutations cause an axonal neuropathy with some specific findings including presence of neuromyotonia, autosomal recessive inheritance, onset in the first decade, and primary motor involvement. In this case report, we described an 18-year-old female patient who presented to the clinic with gait instability and muscle stiffness. A homozygous novel c.180_181delAT (p.Ser61Profs*8) variant in the HINT1 gene was found by clinical exome analysis. Parents were heterozygous for the same variant. The patient was diagnosed with autosomal recessive axonal neuropathy with neuromyotonia. The presence of neuromyotonia must be evaluated in patients with hereditary axonal neuropathies as this can help the diagnosis prior to genetic testing.Publication Metadata only Identification and functional characterization of a novel homozygous mutation in KCNMA1 encoding voltage and calcium sensitive potassium channel is associated with dyskinesia, epilepsy, intellectual disability, cerebellar and corticospinal tract atrophy(2020-12-01T00:00:00Z) Goncu, BEYZA; Aslanger, A.; Ozgul, C.; Hasanoglu, S.; Yesil, G.; GÖNCÜ, BEYZA SERVET; YEŞİL, GÖZDE