| Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. | |
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MedLine Citation:
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PMID: 18513679 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Deficiency of carbohydrate sulfotransferase 3 (CHST3; also known as chondroitin-6-sulfotransferase) has been reported in a single kindred so far and in association with a phenotype of severe chondrodysplasia with progressive spinal involvement. We report eight CHST3 mutations in six unrelated individuals who presented at birth with congenital joint dislocations. These patients had been given a diagnosis of either Larsen syndrome (three individuals) or humero-spinal dysostosis (three individuals), and their clinical features included congenital dislocation of the knees, elbow joint dysplasia with subluxation and limited extension, hip dysplasia or dislocation, clubfoot, short stature, and kyphoscoliosis developing in late childhood. Analysis of chondroitin sulfate proteoglycans in dermal fibroblasts showed markedly decreased 6-O-sulfation but enhanced 4-O-sulfation, confirming functional impairment of CHST3 and distinguishing them from diastrophic dysplasia sulphate transporter (DTDST)-deficient cells. These observations provide a molecular basis for recessive Larsen syndrome and indicate that recessive Larsen syndrome, humero-spinal dysostosis, and spondyloepiphyseal dysplasia Omani type form a phenotypic spectrum. |
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Authors:
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Pia Hermanns; Sheila Unger; Antonio Rossi; Antonio Perez-Aytes; Hector Cortina; Luisa Bonafé; Loredana Boccone; Valeria Setzu; Michel Dutoit; Luca Sangiorgi; Fabio Pecora; Kerstin Reicherter; Gen Nishimura; Jürgen Spranger; Bernhard Zabel; Andrea Superti-Furga |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: American journal of human genetics Volume: 82 ISSN: 1537-6605 ISO Abbreviation: Am. J. Hum. Genet. Publication Date: 2008 Jun |
Date Detail:
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Created Date: 2008-06-03 Completed Date: 2008-06-27 Revised Date: 2011-11-24 |
Medline Journal Info:
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Nlm Unique ID: 0370475 Medline TA: Am J Hum Genet Country: United States |
Other Details:
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Languages: eng Pagination: 1368-74 Citation Subset: IM |
Affiliation:
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Center for Pediatrics and Adolescent Medicine, University of Freiburg, 79106 Freiburg, Germany. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Bone Diseases, Developmental / enzymology*, genetics* Child Child, Preschool Chondroitin Sulfate Proteoglycans / chemistry, metabolism Dislocations / congenital*, enzymology, genetics* Dysostoses / enzymology*, genetics* Female Genes, Recessive Humans Humerus / abnormalities Infant, Newborn Male Mutation* Osteochondrodysplasias / enzymology, genetics Phenotype Spine / abnormalities Sulfotransferases / deficiency*, genetics* Syndrome |
| Grant Support | |
ID/Acronym/Agency:
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GGP06076//Telethon |
| Chemical | |
Reg. No./Substance:
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0/Chondroitin Sulfate Proteoglycans; EC 2.8.2.-/Sulfotransferases; EC 2.8.2.-/carbohydrate sulfotransferases |
| Comments/Corrections | |
Erratum In:
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Am J Hum Genet. 2008 Aug;83(2):293 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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