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.