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Novel CHD7 mutation...
Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome
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- Wessels, Kathrin (författare)
- Hannover Medical School
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- Bohnhorst, Bettina (författare)
- Hannover Medical School
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- Luhmer, Ingrid (författare)
- Hannover Medical School
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- Morlot, Susanne (författare)
- MVZ Wagnerstibbe, Hannover
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- Bohring, Axel (författare)
- Westphalian Wilhelms University
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- Jonasson, Jon (författare)
- Östergötlands Läns Landsting,Linköpings universitet,Molekylär och immunologisk patologi,Hälsouniversitetet,Klinisk patologi och klinisk genetik
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- Epplen, Joerg T (författare)
- Ruhr University Bochum
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- Gadzicki, Dorothea (författare)
- Hannover Medical School
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- Glaser, Stefanie (författare)
- Hannover Medical School
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- Goehring, Gudrun (författare)
- Hannover Medical School
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- Maelzer, Madeleine (författare)
- Hannover Medical School
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- Hein, Anke (författare)
- Hannover Medical School
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- Arslan-Kirchner, Mine (författare)
- Hannover Medical School
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- Stuhrmann, Manfred (författare)
- Hannover Medical School
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- Schmidtke, Joerg (författare)
- Hannover Medical School
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- Pabst, Brigitte (författare)
- Hannover Medical School
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(creator_code:org_t)
- Elsevier Science B.V., Amsterdam, 2010
- 2010
- Engelska.
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Ingår i: EUROPEAN JOURNAL OF MEDICAL GENETICS. - : Elsevier Science B.V., Amsterdam. - 1769-7212. ; 53:5, s. 280-285
- Relaterad länk:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- CHARGE syndrome is an autosomal dominant inherited multiple malformation disorder typically characterized by coloboma, choanal atresia, hypoplastic semicircular canal, cranial nerve defects, cardiovascular malformations and ear abnormalities. Mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene are the major cause of CHARGE syndrome. Mutation analysis was performed in 18 patients with firm or tentative clinical diagnosis of CHARGE syndrome. In this study eight mutations distributed across the gene were found. Five novel mutations - one missense (c.2936Tandgt;C), one nonsense (c.8093Candgt;A) and three frameshift mutations (c.804_805insAT, c.1757_1770del14, c.1793delA) - were identified. As far as familial data were available these mutations were found to have arisen de novo. Comparison of the clinical features of patients with the same mutation demonstrates that expression of the phenotype is highly variable. The mutation detection rate in this study was 44.4% in patients with a clinically established or suspected diagnosis of CHARGE syndrome.
Nyckelord
- CHARGE syndrome
- CHD7
- Mutation
- MLPA
- Detection rate
- Clinical variability
- MEDICINE
- MEDICIN
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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Wessels, Kathrin
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Bohnhorst, Betti ...
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Luhmer, Ingrid
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Morlot, Susanne
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Bohring, Axel
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Jonasson, Jon
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visa fler...
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Epplen, Joerg T
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Gadzicki, Doroth ...
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Glaser, Stefanie
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Goehring, Gudrun
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Maelzer, Madelei ...
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Hein, Anke
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Arslan-Kirchner, ...
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Stuhrmann, Manfr ...
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Schmidtke, Joerg
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Pabst, Brigitte
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visa färre...
- Artiklar i publikationen
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EUROPEAN JOURNAL ...
- Av lärosätet
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Linköpings universitet