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Sökning: onr:"swepub:oai:DiVA.org:oru-40261" > The phenotypic and ...

  • Ozantürk, AyşegülInstitute of Child Health and Metabolism Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey (författare)

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey

  • Artikel/kapitelEngelska2015

Förlag, utgivningsår, omfång ...

  • 2014-10-09
  • New York, USA :Nature Publishing Group,2015
  • printrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:oru-40261
  • https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-40261URI
  • https://doi.org/10.1038/jhg.2014.85DOI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:art swepub-publicationtype

Anmärkningar

  • Alstrom syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvement, including neurosensory vision and hearing loss, childhood obesity, diabetes mellitus, cardiomyopathy, hypogonadism, and pulmonary, hepatic, renal failure and systemic fibrosis. Alstrom Syndrome is caused by mutations in ALMS1, and ALMS1 protein is thought to have a role in microtubule organization, intraflagellar transport, endosome recycling and cell cycle regulation. Here, we report extensive phenotypic and genetic analysis of a large cohort of Turkish patients with ALMS. We evaluated 61 Turkish patients, including 11 previously reported, for both clinical spectrum and mutations in ALMS1. To reveal the molecular diagnosis of the patients, different approaches were used in combination, a cohort of patients were screened by the gene array to detect the common mutations in ALMS1 gene, then in patients having any of the common ALMS1 mutations were subjected to direct DNA sequencing or next-generation sequencing for the screening of mutations in all coding regions of the gene. In total, 20 distinct disease-causing nucleotide changes in ALMS1 have been identified, eight of which are novel, thereby increasing the reported ALMS1 mutations by 6% (8/120). Five disease-causing variants were identified in more than one kindred, but most of the alleles were unique to each single patient and identified only once (16/20). So far, 16 mutations identified were specific to the Turkish population, and four have also been reported in other ethnicities. In addition, 49 variants of uncertain pathogenicity were noted, and four of these were very rare and probably or likely deleterious according to in silico mutation prediction analyses. ALMS has a relatively high incidence in Turkey and the present study shows that the ALMS1 mutations are largely heterogeneous; thus, these data from a particular population may provide a unique source for the identification of additional mutations underlying Alstrom Syndrome and contribute to genotype-phenotype correlation studies.

Ämnesord och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Marshall, Jan DThe Jackson Laboratory, Bar Harbor ME, USA (författare)
  • Collin, Gayle BThe Jackson Laboratory, Bar Harbor ME, USA (författare)
  • Düzenli, SelmaDepartment of Medical Genetics, Abant İzzet Baysal University, Bolu, Turkey (författare)
  • Marshall, Robert PAlström Syndrome International, Mount Desert ME, USA (författare)
  • Candan, ŞükrüDepartment of Medical Genetics, Atatürk State Hospital, Balıkesir, Turkey (författare)
  • Tos, TülayDr. Sami Ulus Maternity and Children’s Hospital, Ankara, Turkey (författare)
  • Esen, İhsanAnkara Pediatric Health and Hematology Oncology Hospital, Ankara,Turkey (författare)
  • Taşkesen, MustafaDepartment of Pediatrics, Dicle University, Diyarbakır, Turkey (författare)
  • Çayır, AtillaPediatric Endocrinology Unit, Department of Medical Genetics, Atatürk University and Erzurum Regional Training and Research Hospital, Erzurum, Turkey (författare)
  • Öztürk, ŞükrüDepartment of Medical Genetics, Istanbul Medical Faculty, İstanbul University, İstanbul, Turkey (författare)
  • Üstün, İhsanDepartment of Endocrinology, Mustafa Kemal University Hospital, Hatay, Turkey (författare)
  • Ataman, EsraDepartment of Medical Genetics, Ege University, İzmir, Turkey (författare)
  • Karaca, Eminİzmir Tepecik Training and Research Hospital Genetic Diagnostic Center, İzmir, Turkey (författare)
  • Özdemir, Taha Reşidİzmir Tepecik Training and Research Hospital Genetic Diagnostic Center, İzmir, Turkey (författare)
  • Erol, İlknurDivision of Pediatric Neurology, Adana Teaching and Medical Research Center, Başkent University, Adana, Turkey (författare)
  • Eroğlu, Fehime KaraNephrology Unit, Department of Pediatrics, Hacettepe University, Ankara, Turkey (författare)
  • Torun, DenizDepartment of Medical Genetics, Gülhane Military Medical Faculty, Ankara, Turkey (författare)
  • Parıltay, ErhanDepartment of Medical Genetics, Ege University, İzmir, Turkey (författare)
  • Yilmaz-Gülec, ElifKanuni Sultan Süleyman Training and Research Hospital, İstanbul, Turkey (författare)
  • Karaca, EnderKanuni Sultan Süleyman Training and Research Hospital, İstanbul, Turkey (författare)
  • Atabek, MEDepartment of Pediatric Endocrinology, Necmettin Erbakan University, Konya, Turkey (författare)
  • Elcioglu, NDepartment of Pediatric Genetics, Marmara University Pendik Hospital, İstanbul, Turkey (författare)
  • Satman, IDivision of Endocrinology and Metabolism, İstanbul Faculty of Medicine, İstanbul University, İstanbul, Turkey (författare)
  • Möller, Claes,1950-Region Örebro län,Department Audiology, The Swedish Institute for Disability Research, Örebro University Hospital, Örebro, Sweden(Swepub:oru)cmr (författare)
  • Muller, JLaboratoire ICUBE, UMR CNRS 7357, LBGI, Université de Strasbourg, Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS UMR 7104/INSERM U964,Université de Strasbourg, Illkirch, France; Laboratoire de diagnostic génétique, Hôtpitaux Universitaires de Strasbourg, Strasbourg, France (författare)
  • Naggert, JKThe Jackson Laboratory, Bar Harbor ME, USA (författare)
  • Ozgül, RKInstitute of Child Health and Metabolism Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey (författare)
  • Institute of Child Health and Metabolism Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, TurkeyThe Jackson Laboratory, Bar Harbor ME, USA (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:International Journal of Human GeneticsNew York, USA : Nature Publishing Group60:1, s. 1-90972-37571434-51611435-232X

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