HUMAN MUTATION 17:159?171 (2001)


Mutations in the Diastrophic Dysplasia Sulfate

Transporter (DTDST) Gene (SLC26A2): 22 Novel

Mutations, Mutation Review, Associated Skeletal

Phenotypes, and Diagnostic Relevance

Antonio Rossi1,2 and Andrea Superti-Furga1*

1Division of Metabolic and Molecular Pediatrics, University Children’s Hospital, Zurich, Switzerland

2Department of Biochemistry, “Alessandro Castellani”, University of Pavia, Pavia, Italy

TABLE 1. Overview of DTDST Gene (SLC26A2) Mutations


Nucleotide protein Associated

change change phenotypesa Ethnicity Remarks Reference

IVS1+2T>C Interference DTD, AO2 Most frequent in Finns, but “Finnish” mutation, giving reduced mRNA Hastbacka et al. [1999]

with commonly found in other levels with intact coding sequence; severity

splicing? European populations dependent on compounding mutation

74C>G S16X DTD Italian Rare This paper

82G>T G19X DTD British-Australian Rare This paper

256A>C N77H DTD French Rare: observed in a mild DTD variant; mouse This paper

and rat genes have serine at this position

282delC FS/stop DTD French Rare This paper

359G>T D111Y DTD German Rare This paper

418delT FS/stop AO2 Dutch Rare Rossi et al. [1996b]

422T>C L132P ACG1B Somali Rare; formal proof of pathogenicity lacking This paper

(see text)

430C>A Q135R DTD French Rare This paper

476delT FS/stop ACG1B Hispanic-American Moderate rare Superti-Furga et al.


523G>A G166R DTD Spanish Rare This paper

558C>T R178X ACG1B, Several Multiple patients Superti-Furga et al.

DTD [1996a]

IVS2+1G>C Interference DTD Several Multiple patients Hastbacka et al.

with [1994]


731-737del FS/stop DTD Hispanic-American Rare This paper



1184C>T A386V DTD Lebanese Rare; homozygous in a patient with classic DTD This paper

1221delA FS/stop ACG1B Several Superti-Furga et al. [1996a]

1269-1272 FS/stop DTD German Rare This paper


1300A>G N425D ACG1B, AO2 Several Recurrent mutation Superti-Furga et al. [1996a]

1388A>C Q454P DTD Lebanese Homozygous in nonlethal but severe DTD with Megarbane et al. [1999]

unusually broad bones

1421delT FS/stop DTD Belgian Rare This paper

1475T>C L483P ACG1B North African Rare Rossi et al. [1996a]

1478G>A G484D DTD Czech Rare This paper

1501C>T R492W DTD Several Multiple patients This paper

1677delG FS/stop DTD British-Italian Rare This paper

1748C>T T574I DTD? German, Dutch Pathogenicity nor proven, possibly rare This paper

polymorphism (see text)

1751delA FS/stop ACG2B, AO2, Several Multiple patients Hastbacka et al. [1994]


1984T>A C653S DTD, rMED Several Multiple patients; observed in a rMED case, This paper

so probably relatively mild mutation

2003delT FS/stop DTD Rare This paper

2010delA FS/stop DTD Rare Hastbacka et al. [1994]

2021A>C H665P AO2 Canadian-British Rare This paper

2060G>T G678V ACG1B USA Rare Superti-Furga et al. [1996a]

2092A>T T689S None Several Neutral polymorphism Cai et al. [1998]; Hastbacka

et al. [1994]; Hastabacka

et al. [1999]

2147-2148 FS/stop DTD French Rare This paper

2171C>T A715V AO2 Rare Hastbacka et al. [1996]

Numbering of nucloetides and amino acids follows reference Hastbacka et al. [1994], while the numbering of exons has been revised after the discovery of a 5˘ untranslated

exon [Hastbacka et al., 1999]. Ethnicity should be taken as an indication only, as in most cases, the figures are too small to suggest that a given mutation is peculiar to a

certain ethnic group, with the notable exception of the “Finnish” mutation.

aAbbreviations: ACG1B, achondrogenesis type 1B; AO2, atelosteogenesis type 2; DTD, diastrophic dysplasia; MED, multiple epiphyseal dysplasia.

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