Dardour Leila, Roelens Filip, Race Valerie, Souche Erika, Holvoet Maureen, Devriendt Koen
Center for Human Genetics, KU Leuven, 3000 Leuven, Belgium.
AZ Delta, 8800 Roeselare, Belgium.
Cold Spring Harb Mol Case Stud. 2017 Jul 5;3(4). doi: 10.1101/mcs.a001537. Print 2017 Jul.
Troyer syndrome (MIM#275900) is an autosomal recessive form of complicated hereditary spastic paraplegia. It is characterized by progressive lower extremity spasticity and weakness, dysarthria, distal amyotrophy, developmental delay, short stature, and subtle skeletal abnormalities. It is caused by deleterious mutations in the gene, encoding spartin, on Chromosome 13q13. Until now, six unrelated families with a genetically confirmed diagnosis have been reported. Here we report the clinical findings in three brothers of a consanguineous Moroccan family, aged 24, 17, and 7 yr old, with spastic paraplegia, short stature, motor and cognitive delay, and severe intellectual disability. Targeted exon capture and sequencing showed a homozygous nonsense mutation in the gene, c.1369C>T (p.Arg457*), in the three affected boys.
特罗耶综合征（MIM#275900）是一种常染色体隐性遗传的复杂遗传性痉挛性截瘫。其特征为进行性下肢痉挛和无力、构音障碍、远端肌萎缩、发育迟缓、身材矮小以及细微的骨骼异常。它是由位于13号染色体q13区域的编码斯巴丁的基因突变所致。到目前为止，已报道了6个经基因确诊的不相关家庭。在此，我们报告一个近亲结婚的摩洛哥家庭中3名兄弟的临床症状，他们的年龄分别为24岁、17岁和7岁，患有痉挛性截瘫、身材矮小、运动和认知发育迟缓以及严重智力残疾。靶向外显子捕获和测序显示，这3名患病男孩的该基因存在纯合无义突变，即c.1369C>T（p.Arg457*）。
