Note: The original file submitted is modified to provide links to the results.
AND SUPERTI-FURGA
TABLE 1. Overview of DTDST Gene (SLC26A2) Mutations
Predicted
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.
[1996a]
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]
splicing?
731-737delGATGGGC FS/stop DTD Hispanic-American Rare This paper
791G>A G255E AO2, DTD Several Multiple patients Hastbacka et al. [1994]
803G>T G259V AO2 Dutch, German Multiple patients; in one case servere AO2 This paper
borderline to ACG1B
862C>T R279W AO2, DTD, Several Most frequent mutation outside Finland; Hastbacka et al. [1996];
rMED probably recurrent when homozygous Rossi et al. [1996b];
results in rMED Superti-Furga et al. [1999]
933-934delCT FS/stop DTD French Rare This paper
1045-1047delGTT V340del ACG1B, Several Recurrent mutation (see text) Cai, et al. [1998]; Hastbacka
 DTD et al. [1999]; Superti-Furgaet al. [1996a]
MUTATIONS IN DTDST GENE SLC26A2 165
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]
1269-1272delAAAC 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]
DTD
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.