Browsing by Author "Bideci, Aysun"

Filter results by typing the first few letters
Now showing 1 - 2 of 2
  • Thumbnail Image
    Item
    Novel mutations in obesity-related genes in Turkish children with non-syndromic early onset Severe obesity: A multicentre study
    (Galenos Yayıncılık, 2019-12) Akıncı, Aysehan; Turkkahraman, Doga; Tekedereli, Ibrahim; Ozer, Leyla; Sahin, Ibrahim; Kalkan, Tarkan; Curek, Yusuf; Camtosun, Emine; Doger, Esra; Bideci, Aysun; Guven, Ayla; Sangun, Ozlem; Cayir, Atilla; Bilir, Pelin; Ergur, Ayca Torel; Ercan, Oya; Evren, Bahri; Eren, Erdal; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Dahili Tıp Bilimleri/Çocuk Sağlığı Ve Hastalıkları Bölümü.; 0000-0002-1684-1053; AAH-1155-2021; AAM-1734-2020; 36113153400
    Objective: Non syndromic monogenic obesity is a rare cause of early onset severe obesity in the childhood period. This form may not be distinguishable from other forms of severe obesity without genetic analysis, particularly if patients do not exibit any physical abnormalities or developmental delay. The aim of this study was to screen 41 different obesity-related genes in children with nonsyndromic early onset severe obesity. Methods: Children with severe (body mass index-standard deviation score >3) and early onset (<7 years) obesity were screened by next-generation sequencing based, targeted DNA custom panel for 41 known-obesity-related genes and the results were confirmed by Sanger technique. Results: Six novel variants were identified in five candidate genes in seven out of 105 children with severe obesity; two in SIM1 (p.W306C and p.Q36X), one in POMC (p.Y160H), one in PCSK1 (p.W130G fs Ter8), two in MC4R (p.D126E) and one in LEPR (p.Q4H). Additionally, two previously known variations in MC4R were identified in four patients (p.R165W in three, and p.V166I in one). Conclusion: We identified six novel and four previously described variants in six obesity-related genes in 11 out of 105 childrens with early onset severe obesity. The prevalence of monogenic obesity was 10.4% in our cohort.
  • Thumbnail Image
    Item
    Rare causes of primary adrenal insufficiency: Genetic and clinical characterization of a large nationwide cohort
    (Endocrine Soc, 2016-01) Güran, Tülay; Buonocore, Federica; Saka, Nurçin; Özbek, Mehmet Nuri; Aycan, Zehra; Bereket, Abdullah; Baş, Firdevs; Darcan, Sükran; Bideci, Aysun; Güven, Ayla; Demir, Korcan; Akıncı, Ayşehan; Büyükinan, Muammer; Aydın, Banu Küçükemre; Turan, Serap; Ağladıoğlu, Sebahat Yılmaz; Atay, Zeynep; Abalı, Zehra Yavaş; Çatlı, Gönül; Yüksel, Bilgin; Akçay, Teoman; Yıldız, Metin; Özen, Samim; Doger, Esra; Demirbilek, Hüseyin; Uçar, Ahmet; Işık, Emregül; Özhan, Bayaram; Bolu, Semih; Özgen, İlker Tolga; Suntharalingham, Jenifer P.; Achermann, John C.; Tarım, Ömer; Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Endokrinoloji ve Diyabet Anabilim Dalı.; 6701427186
    Context: Primary adrenal insufficiency (PAI) is a life-threatening condition that is often due to monogenic causes in children. Although congenital adrenal hyperplasia occurs commonly, several other important molecular causes have been reported, often with overlapping clinical and biochemical features. The relative prevalence of these conditions is not known, but making a specific diagnosis can have important implications for management. Objective: The objective of the study was to investigate the clinical and molecular genetic characteristics of a nationwide cohort of children with PAI of unknown etiology. Design: A structured questionnaire was used to evaluate clinical, biochemical, and imaging data. Genetic analysis was performed using Haloplex capture and next-generation sequencing. Patients with congenital adrenal hyperplasia, adrenoleukodystrophy, autoimmune adrenal insufficiency, or obvious syndromic PAI were excluded. Setting: The study was conducted in 19 tertiary pediatric endocrinology clinics. Patients: Ninety-five children (48 females, aged 0-18 y, eight familial) with PAI of unknown etiology participated in the study. Results: A genetic diagnosis was obtained in 77 patients (81%). The range of etiologies was as follows: MC2R (n = 25), NR0B1 (n = 12), STAR (n = 11), CYP11A1 (n = 9), MRAP (n = 9), NNT (n = 7), ABCD1 (n = 2), NR5A1 (n = 1), and AAAS (n = 1). Recurrent mutations occurred in several genes, such as c.560delT in MC2R, p.R451W in CYP11A1, and c. IVS3ds + 1delG in MRAP. Several important clinical and molecular insights emerged. Conclusion: This is the largest nationwide study of the molecular genetics of childhood PAI undertaken. Achieving a molecular diagnosis in more than 80% of children has important translational impact for counseling families, presymptomatic diagnosis, personalized treatment (eg, mineralocorticoid replacement), predicting comorbidities (eg, neurological, puberty/fertility), and targeting clinical genetic testing in the future.