Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia.

Details

Serval ID
serval:BIB_2BAA6718C884
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Title
Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia.
Journal
Clinical Genetics
Author(s)
Mégarbané A., Haddad F.A., Haddad-Zebouni S., Achram M., Eich G., Le Merrer M., Superti-Furga A.
ISSN
0009-9163 (Print)
ISSN-L
0009-9163
Publication state
Published
Issued date
1999
Volume
56
Number
1
Pages
71-76
Language
english
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
Abstract
Atypical or variant forms of well-known chondrodysplasias may pose diagnostic problems. We report on a girl with clinical features suggesting diastrophic dysplasia but with unusual radiographic features including severe platyspondyly, wide metaphyses, and fibular overgrowth, which are partially reminiscent of metatropic dysplasia. The diagnosis was clarified by molecular analysis of the DTDST gene, which revealed homozygosity for a previously undescribed mutation leading to a Q454P substitution in the 10th transmembrane domain of the DTDST sulfate transporter. Molecular analysis may be of particular value in such atypical cases.
Keywords
Anion Transport Proteins, Biological Transport, Carrier Proteins/genetics, Female, Homozygote, Humans, Infant, Membrane Transport Proteins, Osteochondrodysplasias/classification, Osteochondrodysplasias/genetics, Sulfates/metabolism
Pubmed
Create date
14/03/2011 16:09
Last modification date
20/08/2019 13:11
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