Browsing by Author "Ergoren, Mahmut C."

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Identification of a novel de novo COMP gene variant as a likely cause of Pseudoachondroplasia
(Lippincott Williams & Wilkins, 2021-08-01) Tuncel, Gülten; Akcan, Neşe; Gül, Şeref; Sağ, Şebnem Ö.; Bundak, Ruveyde; Mocan, Gamze; Temel, Şehime G.; Ergoren, Mahmut C.; ÖZEMRİ SAĞ, ŞEBNEM; TEMEL, ŞEHİME GÜLSÜN; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Histoloji Ve Embriyoloji Anabilim Dalı.; Bursa Uludağ Üniversitesi/Sağlık Bilimleri Enstitüsü/Translasyonel Tıp Bölümü.; 0000-0002-9802-0880; AAH-8355-2021; AAG-8385-2021
Next-generation sequencing technology and advanced sequence analysis techniques are markedly speeding up the identification of gene variants causing rare genetic diseases. Pseudoachondroplasia (PSACH, MIM 177170) is a rare disease inherited in an autosomal dominant manner. It is known that variations in the cartilage oligomeric matrix protein (COMP) gene are associated with the disease. Here, we report a 39-month-old boy with short stature. He gave visible growth and development delayed phenotype after 12 months. Further genetic resequencing analysis was carried out to identified the disease-causing variant. Furthermore, computational approaches were used to characterize the effect of the variant. In this study, we identify and report a novel variation in the COMP gene, c.1420_1422del (p.Asn47del), causing a spontaneous form of PSACH in our patient. Our in silico model indicated that any mutational changes in this region are very susceptible to PASCH phenotype. Overall, this study is the first PSACH case in the Turkish Cypriot population. Moreover, this finding contributes to the concept that the genotype-phenotype correlation in COMP is still unknown and also improves our understanding of this complex disorder.
Psychomotor delay in a child with fgfr3 g380r pathogenic mutation causing achondroplasia
(Thieme Medical Publication, 2021-05-21) Ergoren, Mahmut C.; Manara, Elena; Paolacci, Stefano; Tulay, Pinar; Bertelli, Matteo; Mocan, Gamze; Eren, Erdal; EREN, ERDAL; Sag, Sebnem O.; ÖZEMRİ SAĞ, ŞEBNEM; Temel, Sehime Gulsun; TEMEL, ŞEHİME GÜLSÜN; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Endokrinoloji Anabilim Dalı.; 0000-0001-9593-9325; 0000-0002-1684-1053; 0000-0002-1176-3359; 0000-0002-9552-221X; 0000-0002-9802-0880; AAZ-6885-2021; AAY-1413-2020; GQP-2509-2022; JPK-3909-2023; D-8491-2018
Achondroplasia (ACH) is a hereditary disorder of dwarfism that is caused by the aberrant proliferation and differentiation of chondrocyte growth plates. The common findings of macrocephaly and facial anomalies accompany dwarfism in these patients. Fibroblast growth factor receptor 3 ( FGFR3 ) gene mutations are common causes of achondroplasia. The current study presents a case of 2-year-old male presenting with phenotypic characteristics of ACH. The interesting finding of the case is the presence of psychomotor delay that is not very common in these patients. Clinical exome sequencing analyzing 4.813 disease causing genes revealed a de novo c.1138G>A mutation within the FGFR3 gene. In conclusion, the mutation confirms the clinical diagnosis of ACH, and it seems to be causing the psychomotor delay in this patient.
Strong association between serotonin transporter 5- htt vntr variant and psychoactive substance (nicotine) use in the Turkish cypriot population
(Bentham Science Publ Ltd, 2020-01-01) Kandemis, Emine; Tuncel, Gülten; Asut, Özen; Ergoren, Mahmut C.; Temel, Şehime G.; TEMEL, ŞEHİME GÜLSÜN; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Genetik Anabilim Dalı.; 0000-0002-9802-0880; AAG-8385-2021
Background: The use of psychoactive substances is one of the most dangerous social problems worldwide. Nicotine dependence results from the interaction between neurobiological, environmental and genetic factors. Semtonin is a neurotransmitter that has a wide range of central nervous system activities. The serotonin transporter gene has been previously linked to psychological traits.Objective: A variable number of tandem repeats within the serotonin transporter-linked polymorphic gene region are believed to alter the transcriptional efficiency of the 5-HTT gene. Therefore, we aimed to investigate the association between this polymorphic site and smoking behavior in the Turkish Cypriot population.Methods: A total of 259 (100 smokers, 100 non-smokers and 59 ex-smokers) Turkish Cypriots were included in this population-based cross-sectional study. Genomic DNA was extracted from peripheral blood samples and the 5-HTTVNTR2 polymorphisms were determined by the PCR-RFLP.Results: The allelic frequency and genotype distribution results of this study showed a strong association (P<0.0001) between smokers and non-smokers. No statistical significance was found between non-smokers and ex-smokers.Conclusion: This is the first genetic epidemiology study to investigate the allelic frequencies of 5-HTTVNTR2 polymorphisms associated with smoking behavior in the Turkish Cypriot population. Based on the results of this study, genome-wide association studies should be designed for preventive medicine in this population.