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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features
American Journal of Medical Genetics, Part A, Volume 152 A, No. 10, Year 2010
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Description
We recently reported on the deficiency of carbohydrate sulfotransferase 3 (CHST3; chondroitin-6-sulfotransferase) in six subjects diagnosed with recessive Larsen syndrome or humero-spinal dysostosis [Hermanns et al. (2008); Am J Hum Genet 82:1368-1374]. Since then, we have identified 17 additional families with CHST3 mutations and we report here on a series of 24 patients in 23 families. The diagnostic hypothesis prior to molecular analysis had been: Larsen syndrome (15 families), humero-spinal dysostosis (four cases), chondrodysplasia with multiple dislocations (CDMD "Megarbane type"; two cases), Desbuquois syndrome (one case), and spondylo-epiphyseal dysplasia (one case). In spite of the different diagnostic labels, the clinical features in these patients were similar and included dislocation of the knees and/or hips at birth, clubfoot, elbow joint dysplasia with subluxation and limited extension, short stature, and progressive kyphosis developing in late childhood. The most useful radiographic clues were the changes of the lumbar vertebrae. Twenty-four different CHST3 mutations were identified; 16 patients had homozygous mutations. We conclude that CHST3 deficiency presents at birth with congenital dislocations of knees, hips, and elbows, and is often diagnosed initially as Larsen syndrome, humero-spinal dysostosis, or chondrodysplasia with dislocations. The incidence of CHST3 deficiency seems to be higher than assumed so far. The clinical and radiographic pattern (joint dislocations, vertebral changes, normal carpal age, lack of facial flattening, and recessive inheritance) is characteristic and distinguishes CHST3 deficiency from other disorders with congenital dislocations such as filamin B-associated dominant Larsen syndrome and Desbuquois syndrome. © 2010 Wiley-Liss, Inc.
Authors & Co-Authors
Unger, Sheila L.
Germany, Freiburg Im Breisgau
Universität Freiburg
Lausch, Ekkehart U.
Germany, Freiburg Im Breisgau
Universität Freiburg
Rossi, Antonio
Italy, Pavia
Università Degli Studi Di Pavia
Megarbane, Andre
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Sillence, David Owen
Australia, Sydney
The University of Sydney
Alcausin, Melanie
Australia, Sydney
The University of Sydney
Aytes, Antonio
Spain, Valencia
Hospital Infantil la fe
Mendoza-Londono, Roberto
Canada, Toronto
Hospital for Sick Children University of Toronto
Nampoothiri, Sheela
India, Kochi
Amrita Institute of Medical Sciences India
Afroze, Bushra
Pakistan, Karachi
The Aga Khan University Hospital
Hall, Bryan
United States, Lexington
University of Kentucky
Lo, Ivan F.M.
China, Hong Kong
Clinical Genetic Service
Lam, Stephen T.S.
Hong Kong, Hong Kong
Chinese University of Hong Kong
Hoefele, Julia
Germany, Planegg
Center for Human Genetics and Laboratory Medicine
Rost, Imma
Germany, Planegg
Center for Human Genetics and Laboratory Medicine
Wakeling, Emma L.
United Kingdom, Harrow
London North West University Healthcare Nhs Trust
Mangold, Elisabeth
Germany, Bonn
Universitätsklinikum Bonn
Godbole, Komudi
India, Pune
Deenanath Mangeshkar Hospital and Research Center, Pune
Vatanavicharn, Nithiwat
Thailand, Bangkok
Siriraj Hospital
Franco, Luis M.
United States, Houston
Baylor College of Medicine
Chandler, Kate E.
France, Charleville-mezieres
Hôpital Manchester - Centre Hospitalier de Charleville-mézières
Hollander, Sophia
Germany, Freiburg Im Breisgau
Universität Freiburg
Velten, Tanja
Germany, Freiburg Im Breisgau
Universität Freiburg
Reicherter, Kerstin
Germany, Freiburg Im Breisgau
Universität Freiburg
Spranger, Juergen W.
Germany, Freiburg Im Breisgau
Universität Freiburg
Robertson, Stephen P.
New Zealand, Dunedin
Otago Medical School
Bonafé, Luisa
Switzerland, Lausanne
Centre Hospitalier Universitaire Vaudois
Zabel, Bernhard Ulrich
Germany, Freiburg Im Breisgau
Universität Freiburg
Superti-Furga, Andrea
Germany, Freiburg Im Breisgau
Universität Freiburg
Statistics
Citations: 72
Authors: 29
Affiliations: 20
Identifiers
Doi:
10.1002/ajmg.a.33641
ISSN:
15524825
e-ISSN:
15524833
Research Areas
Maternal And Child Health
Study Design
Cohort Study