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- Title
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD).
- Authors
Hästbacka, Johanna; Kerrebrock, Anne; Mokkala, Kati; Clines, Gregory; Lovett, Michael; Kaitila, Ilkka; de la Chapelle, Albert; Lander, Eric S
- Abstract
Diastrophic dysplasia (DTD) is especially prevalent in Finland and the existence of a founder mutation has been previously inferred from the fact that 95% of Finnish DTD chromosomes have a rare ancestral haplotype found in only 4% of Finnish control chromosomes. Here we report the identification of the Finnish founder mutation as a GT->GC transition (c.-26 + 2T > C) in the splice donor site of a previously undescribed 5'-untranslated exon of the diastrophic dysplasia sulfate transporter gene (DTDST); the mutation acts by severely reducing mRNA levels. Among 84 DTD families in Finland, patients carried two copies of the mutation in 69 families, one copy in 14 families, and no copies in one family. Roughly 90% of Finnish DTD chromosomes thus carry the splice-site mutation, which we have designated DTDST[sub Fin]. Unexpectedly, we found that nine of the DTD chromosomes having the apparently ancestral haplotype did not carry DTDST[sub Fin], but rather two other mutations. Eight such chromosomes had an R279W mutation and one had a V340del deletion. We consider the possible implications of presence of multiple DTD mutations on this rare haplotype.
- Subjects
FINLAND; DIASTROPHIC dwarfism; GENETIC mutation
- Publication
European Journal of Human Genetics, 1999, Vol 7, Issue 6, p664
- ISSN
1018-4813
- Publication type
Article