A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia.

Journal of Medical Genetics
L BonaféA Rossi

Abstract

Mutations in the sulfate transporter gene SLC26A2 (DTDST) cause a continuum of skeletal dysplasia phenotypes that includes achondrogenesis type 1B (ACG1B), atelosteogenesis type 2 (AO2), diastrophic dysplasia (DTD), and recessive multiple epiphyseal dysplasia (rMED). In 1972, de la Chapelle et al reported two siblings with a lethal skeletal dysplasia, which was denoted "neonatal osseous dysplasia" and "de la Chapelle dysplasia" (DLCD). It was suggested that DLCD might be part of the SLC26A2 spectrum of phenotypes, both because of the Finnish origin of the original family and of radiographic similarities to ACG1B and AO2. To test the hypothesis whether SLC26A2 mutations are responsible for DLCD. We studied the DNA from the original DLCD family and from seven Finnish DTD patients in whom we had identified only one copy of IVS1+2T>C, the common Finnish mutation. A novel SLC26A2 mutation was found in all subjects, inserted by site-directed mutagenesis in a vector harbouring the SLC26A2 cDNA, and expressed in sulfate transport deficient Chinese hamster ovary (CHO) cells to measure sulfate uptake activity. We identified a hitherto undescribed SLC26A2 mutation, T512K, homozygous in the affected subjects and heterozygous in both parent...Continue Reading

Citations

Jun 17, 2015·Proceedings of the National Academy of Sciences of the United States of America·Tao CaiZhuo-Jing Luo
Apr 25, 2013·American Journal of Medical Genetics. Part a·Johanna SyvänenJaakko Ignatius
Nov 16, 2010·American Journal of Medical Genetics. Part a·Ellen DwyerRichard M Pauli
Jan 25, 2014·American Journal of Medical Genetics. Part a·Mónica Martínez GarcíaMaría-José Trujillo-Tiebas
Jul 16, 2020·Birth Defects Research·Kurt ReynoldsChengji J Zhou
Apr 17, 2020·International Journal of Molecular Sciences·Chiara PaganiniAntonio Rossi
Jul 18, 2019·Journal of Children's Orthopaedics·B SadlerM B Dobbs
Jan 22, 2017·Molecular Cancer Research : MCR·Lina Y DimbergHeide L Ford
Mar 17, 2021·Molecular Genetics & Genomic Medicine·Leonardo GatticchiMatteo Bertelli

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