Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis.

Détails

ID Serval
serval:BIB_84BA456CE001
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis.
Périodique
Bone
Auteur(s)
Pangrazio A., Puddu A., Oppo M., Valentini M., Zammataro L., Vellodi A., Gener B., Llano-Rivas I., Raza J., Atta I., Vezzoni P., Superti-Furga A., Villa A., Sobacchi C.
ISSN
1873-2763 (Electronic)
ISSN-L
1873-2763
Statut éditorial
Publié
Date de publication
2014
Volume
59
Pages
122-126
Langue
anglais
Notes
Publication types: Journal ArticlePublication Status: ppublish
Résumé
Autosomal Recessive Osteopetrosis is a genetic disorder characterized by increased bone density due to lack of resorption by the osteoclasts. Genetic studies have widely unraveled the molecular basis of the most severe forms, while cases of intermediate severity are more difficult to characterize, probably because of a large heterogeneity. Here, we describe the use of exome sequencing in the molecular diagnosis of 2 siblings initially thought to be affected by "intermediate osteopetrosis", which identified a homozygous mutation in the CTSK gene. Prompted by this finding, we tested by Sanger sequencing 25 additional patients addressed to us for recessive osteopetrosis and found CTSK mutations in 4 of them. In retrospect, their clinical and radiographic features were found to be compatible with, but not typical for, Pycnodysostosis. We sought to identify modifier genes that might have played a role in the clinical manifestation of the disease in these patients, but our results were not informative. In conclusion, we underline the difficulties of differential diagnosis in some patients whose clinical appearance does not fit the classical malignant or benign picture and recommend that CTSK gene be included in the molecular diagnosis of high bone density conditions.
Pubmed
Web of science
Open Access
Oui
Création de la notice
07/02/2014 21:32
Dernière modification de la notice
08/05/2019 21:20
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