Abu-Amero Khaled K, Kapoor Seema, Hellani Ali, Monga Sumit, Bosley Thomas M
Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Ophthalmic Genet. 2011 Nov;32(4):231-6. doi: 10.3109/13816810.2011.580445. Epub 2011 May 19.
To describe a family with horizontal gaze palsy and progressive scoliosis with a deleterious mutation in the ROBO3 gene.
All family members had full ophthalmologic, neurologic, and orthopedic examinations and complete sequencing of the ROBO3 gene.
Four affected members had complete loss of horizontal gaze with progressive scoliosis that varied between family members. ROBO3 sequencing revealed a novel 15 base deletion (c.2_16 delTGCTGCGCTACCTGC) in exon 1 that segregated in homozygous form with the phenotype and probably alters the shape and ionic charge of the extracellular immunoglobulin motif 1. This mutation was not detected in 100 control chromosomes.
The novel ROBO3 mutation in this family may be among the most deleterious yet reported. Family members in general were severely affected, but comparison of this family to other families with ROBO3 mutations did not yield a definitive phenotype-genotype correlation.
描述一个患有水平凝视麻痹和进行性脊柱侧弯且ROBO3基因存在有害突变的家族。
所有家族成员均接受了全面的眼科、神经科和骨科检查，并对ROBO3基因进行了完整测序。
四名患病成员出现完全性水平凝视丧失，并伴有家族成员间存在差异的进行性脊柱侧弯。ROBO3测序显示外显子1中有一个新的15碱基缺失（c.2_16 delTGCTGCGCTACCTGC），该缺失以纯合形式与表型分离，可能改变细胞外免疫球蛋白基序1的形状和离子电荷。在100条对照染色体中未检测到该突变。
该家族中这种新的ROBO3突变可能是已报道的最有害的突变之一。总体而言，家族成员受到严重影响，但将该家族与其他具有ROBO3突变的家族进行比较，并未得出明确的表型-基因型相关性。
