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

Détails

ID Serval
serval:BIB_2BAA6718C884
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia.
Périodique
Clinical Genetics
Auteur(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
Statut éditorial
Publié
Date de publication
1999
Volume
56
Numéro
1
Pages
71-76
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
Résumé
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.
Mots-clé
Anion Transport Proteins, Biological Transport, Carrier Proteins/genetics, Female, Homozygote, Humans, Infant, Membrane Transport Proteins, Osteochondrodysplasias/classification, Osteochondrodysplasias/genetics, Sulfates/metabolism
Pubmed
Création de la notice
14/03/2011 17:09
Dernière modification de la notice
03/03/2018 15:25
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