两个约旦家庭中伴有两种新型ROBO3基因突变的水平凝视麻痹和进行性脊柱侧弯
Horizontal gaze palsy and progressive scoliosis with two novel ROBO3 gene mutations in two Jordanian families.
作者信息
Rousan Liqa A, Qased Abu Baker L, Audat Ziad A, Ababneh Laila T, Jaradat Saied A
机构信息
a Department of Diagnostic and Interventional Radiology and Nuclear Medicine , Jordan University of Science and Technology , Irbid , Jordan.
b Department of Orthopedic Surgery , Jordan University of Science and Technology , Irbid , Jordan.
出版信息
Ophthalmic Genet. 2019 Apr;40(2):150-156. doi: 10.1080/13816810.2019.1592199. Epub 2019 Apr 15.
BACKGROUND
Horizontal gaze palsy and progressive scoliosis (HGPPS) is a rare autosomal recessive disorder due to mutations in ROBO3 gene. Patients have characteristic clinical and imaging findings. We report six patients from two families with this disorder with two novel mutations.
MATERIALS AND METHODS
One patient from a non-consanguineous family and five patients from extended consanguineous families were clinically and radiologically examined. Blood samples from the patients and their parents were obtained and all the coding exons and flanking intronic sequences of the ROBO3 gene were amplified and subjected to bidirectional DNA sequencing.
RESULTS
All six patients had the characteristic clinical and radiological findings of HGPPS. Genetic testing showed two novel mutations including frame-shift and nonsense.
CONCLUSION
Two novel mutations in the ROBO3 gene were identified in two Jordanian families with six affected individuals. To our knowledge, this is the first molecular study of HGPPS in Jordan.
背景
水平凝视麻痹伴进行性脊柱侧弯（HGPPS）是一种罕见的常染色体隐性疾病，由ROBO3基因突变引起。患者具有特征性的临床和影像学表现。我们报告了来自两个家庭的6例患有这种疾病的患者，发现了两个新的突变。
材料与方法
对来自一个非近亲家庭的1例患者和来自多个近亲家庭的5例患者进行了临床和放射学检查。采集了患者及其父母的血样，扩增了ROBO3基因的所有编码外显子和侧翼内含子序列，并进行双向DNA测序。
结果
所有6例患者均具有HGPPS的特征性临床和影像学表现。基因检测显示了两个新的突变，包括移码突变和无义突变。
结论
在两个约旦家庭的6名受影响个体中鉴定出ROBO3基因的两个新突变。据我们所知，这是约旦首次对HGPPS进行的分子研究。
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