Letters to the editor
Sulphate transporter gene mutations in apparently isolated club foot
| The first 150 words of the full text of this article appear below. |
EDITOR
Diastrophic dysplasia was originally
ascribed to sulphate transporter gene
(DTDST) mutations. The
DTDST gene is now also known to account for
a variety of bone dysplasias including diastrophic dysplasia,
atelosteogenesis type II (AO2), and achondrogenesis Ib.1-3 Abnormally sulphated cartilage proteoglycans with
deficient cartilage sulphate content has been reported in these
conditions,4 suggesting that a variable residual
DTDST activity probably accounts for the
broad spectrum of clinical phenotypes at this locus.5
While a predominant founder mutation in the splice donor site of a
previously undescribed 5' untranslated exon accounts for the disease in
Finland, more than 30 mutations have been reported so far world
wide6 and compound heterozygosity for variably deleterious
mutations probably explains the broad spectrum of clinical phenotypes
at the DTDST locus.2 7 8 The
R279W mutation is the most common mutation in non-Finnish patients and, apart from its original report in an AO2 patient, compound
heterozygosity for
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Karniski, L. P.
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(2003). Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. J. Med. Genet.
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Bonafe, L, Blanton, S H, Scott, A, Broussard, S, Wise, C A, Superti-Furga, A, Hecht, J T
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Karniski, L. P.
(2001). Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. Hum Mol Genet
10: 1485-1490
[Abstract] [Full Text]
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