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A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia by Koichi Maeda; Yoshinari Miyamoto; Hideaki Sawai; Lawrence P. Karniski; Eiji Nakashima; Gen Nishimura; Shiro Ikegawa is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia about?
## Abstract Diastrophic dysplasia sulfate transporter (DTDST) is a sulfate transporter required for the synthesis of sulfated proteoglycans in the cartilage. Over 30 mutations have been described in the __DTDST__ gene, which result in a continuous clinical spectrum of recessively inherited chondrodysplasias, including, in order of increasing severity, a recessive form of multiple epiphyseal dysplasia (rMED), diastrophic dysplasia (DTD), atelosteogenesis type II (AO‐II) and achondrogenesis 1B (ACG‐1B). Correlation between disease severity and residual sulfate transport activity has been reported. Here we report a patient with __DTDST__ mutations, whose manifestations fell in a range between AO‐II and DTD. The patient was a compound heterozygote for the recurrent c.835C>T (p.R279W) and novel c.1987G>A (p.G663R) mutations. Immunocytochemical analysis in HEK293 cells showed that the p.G663R mutation was localized within the cytoplasm, and not to the cell membrane, suggesting p.G663R is a loss‐of‐function mutation. Our case supports the previously described correlation between the severity of the phenotype and the putative level of residual transport function. © 2006 Wiley‐Liss, Inc.
Who reads A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Koichi Maeda; Yoshinari Miyamoto; Hideaki Sawai; Lawrence P. Karniski; Eiji Nakashima; Gen Nishimura; Shiro Ikegawa
- Publisher
- John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 1552-4825)
- Published
- 2006
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)