A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: Genotype/phenotype correlations
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: Genotype/phenotype correlations
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DOI：
10.1002/(sici)1096-8628(19960503)63:1
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发表时间：
1996-05-03
期刊：
影响因子：
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通讯作者：
Gitzelmann, R
中科院分区：
文献类型：
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作者：
SupertiFurga, A;Rossi, A;Gitzelmann, R
软骨生成1B型(ACG-1B)、软骨生成2型(AO-2)和遗传性软骨发育不良(DTD)均为隐性遗传性软骨发育不良，5号染色体上的DTDST基因突变导致软骨发育不良。在这些情况下，硫酸盐跨细胞膜的转运受损，导致软骨蛋白多糖的硫酸盐化不足，从而导致软骨中硫酸盐含量异常低。表型的严重程度与潜在的DTDST突变的预测效果很好地相关：终止密码子或跨膜结构域替换的纯合性或复合杂合性主要导致1B型软骨发生，而其他结构或调节性突变通常导致较不严重的表型之一。发生在DTDST基因座的软骨发育不良构成一个隐性遗传的骨发育不良家系。(C)1996年Wiley-Liss，Inc.
Achondrogenesis type 1B (ACG-1B), atelosteogenesis type 2 (AO-2), and diastrophic dysplasia (DTD) are recessively inherited chondrodysplasias of decreasing severity caused by mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene on chromosome 5, In these conditions, sulfate transport across the cell membrane is impaired which results in insufficient sulfation of cartilage proteoglycans and thus in an abnormally low sulfate content of cartilage. The severity of the phenotype correlates well with the predicted effect of the underlying DTDST mutations: homozygosity or compound heterozygosity for stop codons or transmembrane domain substitutions mostly result in achondrogenesis type 1B, while other structural or regulatory mutations usually result in one of the less severe phenotypes. The chondrodysplasias arising at the DTDST locus constitute a bone dysplasia family with recessive inheritance. (C) 1996 Wiley-Liss, Inc.