Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

Allali S., Le Goff C., Pressac-Diebold I., Pfennig G., Mahaut C., Dagoneau N., et al.

JOURNAL OF MEDICAL GENETICS, cilt.48, ss.417-421, 2011 (SCI İndekslerine Giren Dergi)

  • Cilt numarası: 48 Konu: 6
  • Basım Tarihi: 2011
  • Doi Numarası: 10.1136/jmg.2010.087544
  • Dergi Adı: JOURNAL OF MEDICAL GENETICS
  • Sayfa Sayısı: ss.417-421

Özet

Background Geleophysic dysplasia (GD, OMIM 231050) is an autosomal recessive disorder characterised by short stature, small hands and feet, stiff joints, and thick skin. Patients often present with a progressive cardiac valvular disease which can lead to an early death. In a previous study including six GD families, we have mapped the disease gene on chromosome 9q34.2 and identified mutations in the A Disintegrin And Metalloproteinase with Thrombospondin repeats-like 2 gene (ADAMTSL2).