Gedeon A, Partington M, Mulley J
Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, Adelaide, Australia.
Am J Med Genet. 1994 Jul 15;51(4):565-8. doi: 10.1002/ajmg.1320510454.
A family with a syndrome of mental retardation, dystonic movements of the hands, and dysarthria (MIM no. 309510) was described and mapped to Xp22 by Partington et al. (Am J Med Genet 1988; 30:251-262). The original localization encompassed the distal half of the short arm of the X chromosome, with a peak lod score of 2.1 at the DXS41 locus. The gene localization for this disorder (PRTS) has now been refined using recently characterized dinucleotide repeat markers. The PRTS gene maps between DXS365 and DXS28, an interval estimated to be less than 15 cM. A peak lod score of 3.01 at a recombination fraction of zero was generated by 2-point linkage analysis with the marker DXS989. Dystonic movements may be progressive and could be overlooked in children. Clinical assessments of affected men who are mentally retarded should be critically evaluated for this manifestation, where they belong to families in which the gene localization overlaps with PRTS.
帕廷顿等人描述了一个患有智力迟钝、手部张力障碍性运动和构音障碍综合征（MIM编号309510）的家系，并将其定位到Xp22（《美国医学遗传学杂志》1988年；30:251 - 262）。最初的定位涵盖了X染色体短臂的远端半部，在DXS41位点的最高对数优势分数为2.1。现在已使用最近鉴定的二核苷酸重复标记对该疾病（PRTS）的基因定位进行了优化。PRTS基因定位于DXS365和DXS28之间，估计间隔小于15厘摩。通过与标记DXS989进行两点连锁分析，在重组率为零时产生了最高对数优势分数3.01。张力障碍性运动可能是进行性的，在儿童中可能被忽视。对于智力迟钝的患病男性进行临床评估时，对于这种表现应进行严格评估，他们所属的家系中基因定位与PRTS重叠。
