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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis
Human Mutation, Volume 33, No. 8, Year 2012
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Description
Desbuquois dysplasia (DD) is characterized by antenatal and postnatal short stature, multiple dislocations, and advanced carpal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. We have identified mutations in calcium activated nucleotidase 1 gene (CANT1) in DD type 1. Recently, CANT1 mutations have been reported in the Kim variant of DD, characterized by short metacarpals and elongated phalanges. DD has overlapping features with spondyloepiphyseal dysplasia with congenital joint dislocations (SDCD) due to Carbohydrate (chondroitin 6) Sulfotransferase 3 (CHST3) mutations. We screened CANT1 and CHST3 in 38 DD cases (6 type 1 patients, 1 Kim variant, and 31 type 2 patients) and found CANT1 mutations in all DD type 1 cases, the Kim variant and in one atypical DD type 2 expanding the clinical spectrum of hand anomalies observed with CANT1 mutations. We also identified in one DD type 2 case CHST3 mutation supporting the phenotype overlap with SDCD. To further define function of CANT1, we studied proteoglycan synthesis in CANT1 mutated patient fibroblasts, and found significant reduced GAG synthesis in presence of β-D-xyloside, suggesting that CANT1 plays a role in proteoglycan metabolism. © 2012 Wiley Periodicals, Inc.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC3427906/bin/humu0033-1261-SD1.pdf
Authors & Co-Authors
Nizon, Mathilde
France, Paris
L'institut Des Maladies Génétiques Imagine
Huber, Céline
France, Paris
L'institut Des Maladies Génétiques Imagine
De Leonardis, Fabio
Italy, Pavia
Università Degli Studi Di Pavia
Merrina, Rodolphe
France, Paris
L'institut Des Maladies Génétiques Imagine
Forlino, Antonella
Italy, Pavia
Università Degli Studi Di Pavia
Fradin, Mélanie
France, Paris
L'institut Des Maladies Génétiques Imagine
Tüysüz, Beyhan
Turkey, Istanbul
İstanbul University-cerrahpaşa Cerrahpaşa Faculty of Medicine
Abu-Libdeh, Bassam Y.
Israel, Jerusalem
Al-makassed Islamic Charitable Society Hospital
Alanay, Yasemin
Turkey, Istanbul
Acibadem Mehmet Ali Aydinlar Universitesi
Albrecht, Beate
Germany, Essen
Universitätsklinikum Essen
Al-Gazali, Lihadh I.
United Arab Emirates, Al Ain
United Arab Emirates University
Basaran, Sarenur Y.
Turkey, Istanbul
İstanbul University-cerrahpaşa Cerrahpaşa Faculty of Medicine
Clayton-Smith, Jill
United Kingdom, Manchester
The University of Manchester
Désir, Julie
Belgium, Brussels
Hôpital Erasme
Gill, Harinder
Ireland, Dublin
Our Lady's Hospital for Sick Children
Greally, Marie T.
Ireland, Dublin
Our Lady's Hospital for Sick Children
Koparir, Erkan
Turkey, Istanbul
İstanbul University-cerrahpaşa Cerrahpaşa Faculty of Medicine
van Maarle, Merel C.
Netherlands, Amsterdam
Amsterdam Umc - University of Amsterdam
MacKay, Sara B.
Canada, St John's
Eastern Health, Canada
Mortier, Geert R.
Belgium, Edegem
Universitair Ziekenhuis Antwerpen
Morton, Jenny E.V.
United Kingdom, Birmingham
Birmingham Women's Hospital
Sillence, David Owen
Australia, Sydney
The University of Sydney
Vilain, Catheline N.
Belgium, Brussels
Hôpital Erasme
Young, Ian D.
United Kingdom, Leicester
Leicester Royal Infirmary
Zerres, Klaus P.
Germany, Aachen
Rheinisch-westfälische Technische Hochschule Aachen
Le Merrer, Martine F.
France, Paris
L'institut Des Maladies Génétiques Imagine
Münnich, Arnold
France, Paris
L'institut Des Maladies Génétiques Imagine
Le Goff, Carine
France, Paris
L'institut Des Maladies Génétiques Imagine
Rossi, Antonio
Italy, Pavia
Università Degli Studi Di Pavia
Cormier-Dairé, Valeŕie
France, Paris
L'institut Des Maladies Génétiques Imagine
Statistics
Citations: 46
Authors: 30
Affiliations: 17
Identifiers
Doi:
10.1002/humu.22104
ISSN:
10597794
e-ISSN:
10981004
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Maternal And Child Health