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

↓ Direkt till sidans innehåll
↓ Direkt till sidans sekundära innehåll (sidomenyn)

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

1 av 1
Föregående post
Nästa post
Till träfflistan

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

Ozantürk, Ayşegül (författare): Institute of Child Health and Metabolism Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey

Marshall, Jan D (författare): The Jackson Laboratory, Bar Harbor ME, USA

Collin, Gayle B (författare): The Jackson Laboratory, Bar Harbor ME, USA

visa fler...

Düzenli, Selma (författare): Department of Medical Genetics, Abant İzzet Baysal University, Bolu, Turkey

Marshall, Robert P (författare): Alström Syndrome International, Mount Desert ME, USA

Candan, Şükrü (författare): Department of Medical Genetics, Atatürk State Hospital, Balıkesir, Turkey

Tos, Tülay (författare): Dr. Sami Ulus Maternity and Children’s Hospital, Ankara, Turkey

Esen, İhsan (författare): Ankara Pediatric Health and Hematology Oncology Hospital, Ankara,Turkey

Taşkesen, Mustafa (författare): Department of Pediatrics, Dicle University, Diyarbakır, Turkey

Çayır, Atilla (författare): Pediatric Endocrinology Unit, Department of Medical Genetics, Atatürk University and Erzurum Regional Training and Research Hospital, Erzurum, Turkey

Öztürk, Şükrü (författare): Department of Medical Genetics, Istanbul Medical Faculty, İstanbul University, İstanbul, Turkey

Üstün, İhsan (författare): Department of Endocrinology, Mustafa Kemal University Hospital, Hatay, Turkey

Ataman, Esra (författare): Department of Medical Genetics, Ege University, İzmir, Turkey

Karaca, Emin (författare): İzmir Tepecik Training and Research Hospital Genetic Diagnostic Center, İzmir, Turkey

Özdemir, Taha Reşid (författare): İzmir Tepecik Training and Research Hospital Genetic Diagnostic Center, İzmir, Turkey

Erol, İlknur (författare): Division of Pediatric Neurology, Adana Teaching and Medical Research Center, Başkent University, Adana, Turkey

Eroğlu, Fehime Kara (författare): Nephrology Unit, Department of Pediatrics, Hacettepe University, Ankara, Turkey

Torun, Deniz (författare): Department of Medical Genetics, Gülhane Military Medical Faculty, Ankara, Turkey

Parıltay, Erhan (författare): Department of Medical Genetics, Ege University, İzmir, Turkey

Yilmaz-Gülec, Elif (författare): Kanuni Sultan Süleyman Training and Research Hospital, İstanbul, Turkey

Karaca, Ender (författare): Kanuni Sultan Süleyman Training and Research Hospital, İstanbul, Turkey

Atabek, ME (författare): Department of Pediatric Endocrinology, Necmettin Erbakan University, Konya, Turkey

Elcioglu, N (författare): Department of Pediatric Genetics, Marmara University Pendik Hospital, İstanbul, Turkey

Satman, I (författare): Division of Endocrinology and Metabolism, İstanbul Faculty of Medicine, İstanbul University, İstanbul, Turkey

Möller, Claes, 1950- (författare): Region Örebro län,Department Audiology, The Swedish Institute for Disability Research, Örebro University Hospital, Örebro, Sweden

Muller, J (författare): Laboratoire 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

Naggert, JK (författare): The Jackson Laboratory, Bar Harbor ME, USA

Ozgül, RK (författare): Institute of Child Health and Metabolism Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey

visa färre...

(creator_code:org_t)

2014-10-09
2015
Engelska.
Ingår i: International Journal of Human Genetics. - New York, USA : Nature Publishing Group. - 0972-3757 .- 1434-5161 .- 1435-232X. ; 60:1, s. 1-9

Relaterad länk:: https://www.nature.c...; visa fler...; https://urn.kb.se/re...; https://doi.org/10.1...; visa färre...

Tidskriftsartikel (refereegranskat)

Abstract Ämnesord

Stäng

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.

Hitta via bibliotek

International Journal of Human Genetics (Sök värdpublikationen i LIBRIS)

Till lärosätets databas

1 av 1
Föregående post
Nästa post
Till träfflistan

Hitta mer i SwePub

Om ämnet

NATURVETENSKAP: NATURVETENSKAP; och Biologi; och Genetik

Artiklar i publikationen: International Jo ...

Av lärosätet: Örebro universitet

Sök utanför SwePub

Sök vidare i:: Google; Google Book Search; Google Scholar

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

LIBRIS.kb.se

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

Ämnesord

Publikations- och innehållstyp

Hitta via bibliotek

Till lärosätets databas

Hitta mer i SwePub

Sök utanför SwePub