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  • Küçük Resim
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    Evaluation and identification of ıdua gene mutations in turkishpatients with mucopolysaccharidosis type I
    (2016) Atçeken, Nazente; Özgül, Rıza Köksal; Yücel Yılmaz, Didem; Tokatlı, Ayşegül; Coşkun, Turgay; Sivri, Hatice Serap; Dursun, Ali; Karaca, Mehmet
    Background/aim: This study aimed to identify IDUA gene mutations in Turkish patients morphologically (phenotypic) diagnosed with MPS type I. It also sought to discuss the possible effects of detected mutations on alpha-L-iduronidase enzyme function based on current knowledge. Materials and methods: Genetic analysis was carried out in 15 patients using direct DNA sequencing. Moreover, segregation analysis was performed among family members to predict the pathogenic effect of novel mutations, and computational programs were used to predict their functional impact. Results: Nine different mutations (c.494-1G>A, c.793-6C>G, c.793-5C>A, p.M1L, p.Y64X, p.A327P, p.W402X, p.P533L, and p.R628X) were identified. Computational analysis results supported the pathogenicity of novel mutations, suggesting improper splicing. Seven already-known polymorphisms were detected in the screened cohort as well. Conclusion: Our results revealed heterogeneity in the mutation spectrum of Turkish patients. Six of the mutations, including the novel ones, have never before been reported in the Turkish population. Moreover, 5 patients who were phenotypically diagnosed with MPS type I could not be confirmed by genetic analysis, indicating the importance of the molecular characterization of MPS subtypes.
  • Küçük Resim
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    Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey
    (Wiley, 2017) Kılıç, Mustafa; Dursun, Ali; Coşkun, Turgay; Tokatlı, Ayşegül; Özgül, Rıza K.; Yücel Yılmaz, Didem; Karaca, Mehmet; Doğru, Deniz; Alehan, Dursun; Kadayıfcılar, Sibel; Genç, Aydan; Turan Dizdar, Handan; Gönüldas, Burhanettin; Savcı, Sema; Sağlam, Melda; Aksoy, Cemalettin; Arslan, Umut; Sivri, Hatice Serap
    Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disorder (LSD) characterized by a chronic, progressive course with multiorgan involvement. In our study, clinical, biochemical, molecular findings, and response to enzyme replacement therapy (ERT) for at least 6 months were evaluated in 20 patients with MPS VI. Treatment effects on clinical findings such as liver and spleen sizes, cardiac and respiratory parameters, visual and auditory changes, joints' range of motions, endurance tests and changes in urinary glycosaminoglycan excretions, before and after ERT were analyzed. ERT caused increased physical endurance and decreased urinary dermatan sulfate/chondroitin sulfate ratios. Changes in growth parameters, cardiac, respiratory, visual, auditory findings, and joint mobility were not significant. All patients and parents reported out an increased quality of life, which were not correlated with clinical results. The most prevalent mutation was p.L321P, accounting for 58.8% of the mutant alleles and two novel mutations (p.G79E and p.E390K) were found. ERT was a safe but expensive treatment for MPS VI, with mild benefits in severely affected patients. Early treatment with ERT is mandatory before many organs and systems are involved.
  • Küçük Resim
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    High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: Molecular and clinical findings of Turkish probands
    (Elsevier Science Bv, 2014) Karaca, Mehmet; Hismi, Burcu; Özgul, Riza Koksal; Karaca, Şefayet; Yılmaz, Didem Yücel; Coşkun, Turgay; Sivri, Hatice Serap; Tokatlı, Ayşegül; Dursun, Ali
    Classical homocystinuria is the most commonly inherited disorder of sulfur metabolism, caused by the genetic alterations in human cystathionine beta-synthase (CBS) gene. In this study, we present comprehensive clinical findings and the genetic basis of homocystinuria in a cohort of Turkish patients. Excluding some CBS mutations, detailed genotype-phenotype correlation for different CBS mutations has not been established in literature. We aimed to make clinical subgroups according to main clinical symptoms and discussed these data together with mutational analysis results from our patients. Totally, 16 different mutations were identified; twelve of which had already been reported, and four are novel (p.N93Y, p.L251P, p.D281V and c.829-2A>T). The probands were classified into three major groups according to the clinical symptoms caused by these mutations. A psychomotor delay was the most common diagnostic symptom (n = 12, 46.2% neurological presentation), followed by thromboembolic events (n = 6, 23.1% vascular presentation) and lens ectopia, myopia or marfanoid features (n = 5, 19.2% connective tissue presentation). Pyridoxine responsiveness was 7.7%; however, with partial responsive probands, the ratio was 53.9%. In addition, five thrombophilic nucleotide changes including MTHFR c.677 C>T and c.1298 A>C, Factor V c.1691 G>A, Factor II c.20210 G>A, and SERPINE1 4G/5G were investigated to assess their contributions to the clinical spectrum. We suggest that the effect of these polymorphisms on clinical phenotype of CBS is not very clear since the distribution of thrombophilic polymorphisms does not differ among specific groups. This study provides molecular findings of 26 Turkish probands with homocystinuria and discusses the clinical presentations and putative effects of the CBS mutations. Crown Copyright (C) 2013 Published by Elsevier B.V. All rights reserved.
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    Molecular analysis of homocystinuria in Turkish patients
    (SPRINGER, 2010) Karaca, Mehmet; Özgül, Rıza Köksal; Dündar, H.; Coşkun, Turgay; Tokatlı, Ayşegül; Sivri, Hatice Serap; Dursun, Ali
    [Abstract Not Available]
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    Molecular and structural analysıs of six nonsense mutations in mut methylmalonic acidemia patients including two novel nonsense mutations
    (SPRINGER, 2010) Dündar, H.; Özgül, Rıza Köksal; Ünal, O.; Karaca, Mehmet; Aydın, H., I; Tokatli, Ayşegül; Sivri, Hatice Serap; Coşkun, Turgay; Dursun, Ali
    [Abstract Not Available]
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    Molecular characterisation of biotinidase gene mutations in Turkish patients; an update of the results
    (SPRINGER, 2012) Karaca, Mehmet; Yucel, D.; Unal, O.; Guzel, A.; Tokatlı, Ayşegül; Coskun, Turgay; Dursun, Ali; Sivri, Hatice Serap
    [Abstract Not Available]
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    Mutation analysis in arsb gene in Turkish patients with mps type vı: high prevalence of L321P mutation
    (SPRINGER, 2011) Özgül, Rıza Köksal; Karaca, Mehmet; Sivri, Hatice; Tokatlı, Ayşegül; Coşkun, Turgay; Dursun, Ali
    [Abstract Not Available]
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    Öğe
    Mutation analysis in biotinidase gene by denaturing high pressure liquid chromatography
    (SPRINGER, 2010) Karaca, Mehmet; Özgül, Rıza Köksal; Güzel, A.; Kılıç, M.; Tokatlı, Ayşegül; Coskun, Turgay; Göksun, E.; Dursun, Ali; Sivri, Hatice Serap
    [Abstract Not Available]
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    Öğe
    Mutation detection in Turkish patients with glutaric aciduria type I
    (SPRINGER, 2010) Güzel, A.; Özgül, Rıza Köksal; Yücel, D.; Karaca, Mehmet; Kılıç, M.; Coşkun, Turgay; Tokatlı, Ayşegül; Sivri, Hatice Serap; Dursun, Ali
    [Abstract Not Available]
  • Küçük Resim
    Öğe
    Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia
    (Elsevier, 2014) Özgül, Rıza Köksal; Karaca, Mehmet; Kılıç, Mustafa; Küçük, Özgül; Yücel-Yılmaz, Didem; Ünal, Özlem; Hişmi, Burcu; Aliefendioğlu, Didem; Sivri, Serap; Tokatlı, Ayşegül; Coşkun, Turgay; Dursun, Ali
    We aim to investigate the genetic basis of isovaleryl-CoA dehydrogenase (IVD) gene mutations and genotype-phenotype correlations in Turkish patients. Accordingly, bi-directional sequencing was performed to screen 26 patients with isovaleric acidemia (IVA). Nine novels (c.145delC, c.234 + 3G > C, c.506_507insT, p.Glu85Gln, p.Met147Val, p.Ala268Val, p.Ile287Met, p.Gly346Asp and p.Arg382Trp) and six previously reported (c.456 + 2T > C, p.Arg21His, p.Arg21Pro, p.Arg363Cys, p.Arg363His p.Glu379Lys) pathogenic mutations were identified. Pathogenicity of the novel mutations was supported using computational programs. No clear genotype-phenotype correlation could be determined. One of the cases with the novel c.234 + 3G > C mutation has portoseptal liver fibrosis, the clinical condition that was first reported for IVA. This study is the first comprehensive report from Turkey related to IVA genetics that provides information about the high number of disease-causing novel mutations. (C) 2014 Elsevier Masson SAS. All rights reserved.