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

Détails

Ressource 1Télécharger: 21415077_Postprint.pdf (704.81 [Ko])
Etat: Public
Version: de l'auteur
ID Serval
serval:BIB_6DC3213D3803
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.
Périodique
Journal of Medical Genetics
Auteur(s)
Allali S., Le Goff C., Pressac-Diebold I., Pfennig G., Mahaut C., Dagoneau N., Alanay Y., Brady A.F., Crow Y.J., Devriendt K., Drouin-Garraud V., Flori E., Geneviève D., Hennekam R.C., Hurst J., Krakow D., Le Merrer M., Lichtenbelt K.D., Lynch S.A., Lyonnet S., Macdermot K., Mansour S., Megarbané A., Santos H.G., Splitt M., Superti-Furga A., Unger S., Williams D., Munnich A., Cormier-Daire V.
ISSN
1468-6244 (Electronic)
ISSN-L
0022-2593
Statut éditorial
Publié
Date de publication
2011
Volume
48
Numéro
6
Pages
417-421
Langue
anglais
Résumé
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). Methods Following this study, we have collected the samples of 30 additional GD families, including 33 patients and identified ADAMTSL2 mutations in 14/33 patients, comprising 13 novel mutations. The absence of mutation in 19 patients prompted us to compare the two groups of GD patients, namely group 1, patients with ADAMTSL2 mutations (n=20, also including the 6 patients from our previous study), and group 2, patients without ADAMTSL2 mutations (n=19). Results The main discriminating features were facial dysmorphism and tip-toe walking, which were almost constantly observed in group 1. No differences were found concerning heart involvement, skin thickness, recurrent respiratory and ear infections, bronchopulmonary insufficiency, laryngo-tracheal stenosis, deafness, and radiographic features. Conclusions It is concluded that GD is a genetically heterogeneous condition. Ongoing studies will hopefully lead to the identification of another disease gene.
Pubmed
Web of science
Création de la notice
14/06/2011 14:16
Dernière modification de la notice
20/08/2019 15:27
Données d'usage