Browsing by Subject "Amino Acid Sequence"

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    Histopathological and genetic features of patients with limb girdle muscular dystrophy type 2C; [Kavşak tipi müsküler distrofi tip 2C hastalari{dotless}ni{dotless}n histopatolojik ve genetik özellikleri]
    (Federation of Turkish Pathology Societies, 2014) Diniz G.; Hazan F.; Tosun Yildirim H.; Ünalp A.; Polat M.; Serdaroǧlu G.; Güzel O.; Baǧ Ö.; SeçIl Y.; Özgönül F.; Türe S.; Akhan G.; Tükün A.
    Objective: In this study, it was aimed to describe the clinical, histopathological and genetic features of 20 patients with gamma sarcoglycanopathy confirmed by muscle biopsies and genetic analysis. Material and Method: We retrospectively reviewed 20 patients from whom muscle biopsy specimens were obtained between 2007 and 2012. All patients were clinically diagnosed as muscular dystrophy and biopsy materials were collected from five different centers of neurological disorders. All DNAs were extracted from muscle tissues or blood samples of patients and genetic tests (mutation analyses for gamma sarcoglycan gene and deletion-duplication analyses for all 4 sarcoglycan genes) were performed. Results: The mean age of the patients was 7.6 years (2 -21 years). Only one case (5%) was older than 14 years. The mean CPK level was 10311 U/L (1311 - 35000 U/L). There were 4 siblings in these series. Expression defects of gamma sarcoglycan staining were determined in (15 males, and 5 females) all patients with muscle biopsy specimens. But only in 9 of them, disease-causing defects could be determined with genetic analyses. Conclusion: The present study has demonstrated that both examination of muscle biopsy specimens and DNA analysis remain important methods in the differential diagnosis of muscular dystrophies. Because dystrophinopathies and sarcoglycanopathies have similar clinical manifestation.
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    Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome
    (Taylor and Francis Ltd, 2019) Ergoren M.C.; Turkgenc B.; Teralı K.; Rodoplu O.; Verstraeten A.; Van Laer L.; Mocan G.; Loeys B.; Tetik O.; Temel S.G.
    Marfan syndrome (MFS) is a multi-systemic autosomal dominant condition caused by mutations in the gene (FBN1) coding for fibrillin-1. Mutations have been associated with a wide range of overlapping phenotypes. Here, we report on an extended family presenting with skeletal, ocular and cardiovascular clinical features. The 37-year-old male propositus, who had chest pain, dyspnea and shortness of breath, was first diagnosed based on the revised Ghent criteria and then subjected to molecular genetic analyses. FBN1 sequencing of the proband as well as available affected family members revealed the presence of a novel variant, c.7828G>C (p.Glu2610Gln), which was not present in any of the unaffected family members. In silico analyses demonstrated that the Glu2610 residue is part of the conserved DINE motif found at the beginning of each cbEGF domain of FBN1. The substitution of Glu2610 with Gln decreased fibrillin-1 production accordingly. Despite the fact that this variation appears to be primarily responsible for the etiology of MFS in the present family, our findings suggest that variable clinical expressions of the disease phenotype should be considered critically by the physicians. © 2018, © 2018 Informa UK Limited, trading as Taylor & Francis Group.