Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign

Details

Serval ID
serval:BIB_D3F82D0A707A
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign
Journal
American Journal of Medical Genetics. Part A
Author(s)
Makitie  O., Savarirayan  R., Bonafe  L., Robertson  S., Susic  M., Superti-Furga  A., Cole  W. G.
ISSN
1552-4825
Publication state
Published
Issued date
10/2003
Peer-reviewed
Oui
Volume
122
Number
3
Pages
187-92
Notes
Case Reports
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Oct 15
Abstract
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene result in a family of skeletal dysplasias, which comprise lethal (achondrogenesis type 1B and atelosteogenesis type 2) and non-lethal conditions (diastrophic dysplasia and recessive multiple epiphyseal dysplasia (rMED)). The most frequent mutation is R279W, which in a homozygous state results in rMED with bilateral clubfoot, MED, and "double layered" patella. We describe three patients with rMED caused by a previously unreported homozygous mutation in the DTDST gene. The three patients (from two families) were born to healthy, non-consanguineous parents. All developed signs of hip dysplasia in early childhood and two had episodes of recurrent patella dislocation. Two underwent bilateral total hip replacements at ages 13 and 14 years. The feet, external ears, and palate were normal. Stature was normal in all cases. Radiographs showed dysplastic femoral heads, mild generalized epiphyseal dysplasia, abnormal patella ossification, and normal hands and feet. Direct sequence analysis of genomic DNA demonstrated a homozygous 1984T > A (C653S) change in the DTDST gene in all patients. The clinically normal parents were heterozygous for the change. This is the first description of a homozygous C653S mutation of the DTDST gene. Hip dysplasia and patella hypermobility dominates the otherwise mild phenotype. These patients further expand the range of causative mutations in the DTD skeletal dysplasia family.
Keywords
Adolescent *Amino Acid Substitution Anion Transport Proteins Carrier Proteins/*genetics Child Child, Preschool DNA/chemistry/genetics DNA Mutational Analysis Family Health Female Genes, Recessive/genetics Homozygote Humans Male Membrane Transport Proteins Mutation Osteochondrodysplasias/*genetics/pathology Patella/*abnormalities
Pubmed
Web of science
Create date
21/01/2008 12:50
Last modification date
20/08/2019 15:53
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