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, HURİYE; 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

Atıf İçin Kopyala

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

JOURNAL OF MEDICAL GENETICS, cilt.50, sa.5, ss.309-323, 2013 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 50 Sayı: 5
Basım Tarihi: 2013
Doi Numarası: 10.1136/jmedgenet-2012-101284
Dergi Adı: JOURNAL OF MEDICAL GENETICS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.309-323
Marmara Üniversitesi Adresli: Evet

Özet

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.