HUMAN MUTATION 17:159?171 (2001)


MUTATION UPDATE


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



http://download.interscience.wiley.com/cgi-bin/fulltext?ID=78504562&PLACEBO=IE.pdf&mode=pdf



http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=nucleotide&list_uids=549987&dopt=GenBank



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?


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


GATGGGC


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]


1269-1272 FS/stop DTD German Rare This paper


delAAAC


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.





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