Chan W-M, Traboulsi E I, Arthur B, Friedman N, Andrews C, Engle E C
J Med Genet. 2006 Mar;43(3):e11. doi: 10.1136/jmg.2005.035436.
Horizontal gaze palsy with progressive scoliosis (HGPPS) is an autosomal recessive disorder characterised by congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticospinal and somatosensory axon tracts to decussate in the medulla. We previously reported that HGPPS patients from consanguineous pedigrees harbour homozygous mutations in the axon guidance molecule ROBO3.
We now report two sporadic HGPPS children of non-consanguineous parents who harbour compound heterozygous mutations in ROBO3. The mother of one of the children also had scoliosis DNA was extracted from a blood sample from each participant using a standard protocol, and the coding exons of ROBO3 were amplified and sequenced as previously described.
Each patient harboured two unique heterozygous mutations in ROBO3, having inherited one mutation from each parent.
HGPPS can result from compound heterozygous mutations. More comprehensive examinations of parents and siblings of HGPPS patients are required to determine if the incidence of scoliosis in individuals harbouring heterozygous ROBO3 mutations is greater than in the general population.
伴有进行性脊柱侧弯的水平凝视麻痹（HGPPS）是一种常染色体隐性疾病，其特征为先天性水平凝视缺失、进行性脊柱侧弯，以及皮质脊髓和躯体感觉轴突束在延髓中不能交叉。我们之前报道过，来自近亲家系的HGPPS患者在轴突导向分子ROBO3中存在纯合突变。
我们现在报告两名非近亲父母的散发型HGPPS儿童，他们在ROBO3中存在复合杂合突变。其中一名儿童的母亲也患有脊柱侧弯。使用标准方案从每个参与者的血样中提取DNA，按照之前描述的方法对ROBO3的编码外显子进行扩增和测序。
每名患者在ROBO3中都有两个独特的杂合突变，分别从父母双方各继承一个突变。
HGPPS可由复合杂合突变引起。需要对HGPPS患者的父母和兄弟姐妹进行更全面的检查，以确定携带ROBO3杂合突变个体的脊柱侧弯发病率是否高于普通人群。
