Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Schmidts, Miriam; Arts, Heleen; Bongers, Ernie; Yap, Zhimin; Oud, Machteld; Antony, Dinu; Duijkers, Lonneke; Emes, Richard; Stalker, Jim; Yntema, Jan-Bart; Plagnol, Vincent; Hoischen, Alexander; Gilissen, Christian; Forsythe, Elisabeth; Lausch, Ekkehart; Veltman, Joris; Roeleveld, Nel; Superti-Furga, Andrea; Kutkowska-Kazmierczak, Anna; Kamsteeg, Erik-Jan; Elcioglu, Nursel; van Maarle, Merel; Graul-Neumann, Luitgard; Devriendt, Koenraad; Smithson, Sarah; Wellesley, Diana; Verbeek, Nienke; Hennekam, Raoul; Kayserili, Hulya; Scambler, Peter; Beales, Philip; Knoers, Nine; Roepman, Ronald; Mitchison, Hannah

doi:10.1136/jmedgenet-2012-101284

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

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Schmidts M., Arts H. H., Bongers E. M. H. F., Yap Z., Oud M. M., Antony D., ...More

JOURNAL OF MEDICAL GENETICS, vol.50, no.5, pp.309-323, 2013 (SCI-Expanded)

Publication Type: Article / Article
Volume: 50 Issue: 5
Publication Date: 2013
Doi Number: 10.1136/jmedgenet-2012-101284
Journal Name: JOURNAL OF MEDICAL GENETICS
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.309-323
Istanbul University Affiliated: Yes

Abstract

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.