Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
Tarih
2013Yazar
Elcioglu, Nursel
van Maarle, Merel C.
Graul-Neumann, Luitgard M.
Devriendt, Koenraad
Smithson, Sarah F.
Wellesley, Diana
Verbeek, Nienke E.
Hennekam, Raoul C. M.
Kayserili, Hulya
Scambler, Peter J.
Beales, Philip L.
Knoers, Nine V. A. M.
Roepman, Ronald
Mitchison, Hannah M.
Yntema, Jan-Bart L.
Schmidts, Miriam
Arts, Heleen H.
Bongers, Ernie M. H. F.
Yap, Zhimin
Oud, Machteld M.
Antony, Dinu
Duijkers, Lonneke
Emes, Richard D.
Stalker, Jim
Plagnol, Vincent
Hoischen, Alexander
Gilissen, Christian
Forsythe, Elisabeth
Lausch, Ekkehart
Veltman, Joris A.
Roeleveld, Nel
Superti-Furga, Andrea
Kutkowska-Kazmierczak, Anna
Kamsteeg, Erik-Jan
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Background Jeune asphyxiating thoracic dystrophy (JATD) is a rare, often lethal, recessively inherited chondrodysplasia characterised by shortened ribs and long bones, sometimes accompanied by polydactyly, and renal, liver and retinal disease. Mutations in intraflagellar transport (IFT) genes cause JATD, including the IFT dynein-2 motor subunit gene DYNC2H1. Genetic heterogeneity and the large DYNC2H1 gene size have hindered JATD genetic diagnosis.
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