Article
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.
Journal of medical genetics - 1 May 2013
Schmidts Miriam, Arts Heleen H, Bongers Ernie M H F, Yap Zhimin, Oud Machteld M, Antony Dinu, Duijkers Lonneke, Emes Richard D, Stalker Jim, Yntema Jan-Bart L, Plagnol Vincent, Hoischen Alexander, Gilissen Christian, Forsythe Elisabeth, Lausch Ekkehart, Veltman Joris A, Roeleveld Nel, Superti-Furga Andrea, Kutkowska-Kazmierczak Anna, Kamsteeg Erik-Jan, Elçioğlu 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 Vam, Roepman Ronald, Mitchison Hannah M
Abstract excerpt
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...
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