Eker Hatice Koçak, Unlü Süleyman Ersin, Al-Salmi Fatema, Crosby Andrew H
Department of Medical Genetics, Dr Faruk Sükan Maternity and Pediatric Hospital, Konya, Turkey.
Elvankent Ayyıldız Family Health Center, Ankara, Turkey.
Eur J Med Genet. 2014 May-Jun;57(6):275-8. doi: 10.1016/j.ejmg.2014.03.006. Epub 2014 Apr 3.
Autosomal recessive early onset forms of motor neuron disorders including infantile-onset ascending hereditary spastic paraplegia (OMIM #607225) are due to homozygous mutations in the ALS2 gene. Here, we report on a novel splice-site mutation of the ALS2 (c.2351+2C>A) in four children of a consanguineous union with infantile-onset ascending hereditary spastic paraplegia.
常染色体隐性遗传的早发型运动神经元疾病，包括婴儿期起病的进行性遗传性痉挛性截瘫（OMIM #607225），是由ALS2基因的纯合突变引起的。在此，我们报告了一例近亲结婚夫妇的四个孩子中出现的一种新的ALS2剪接位点突变（c.2351+2C>A），这些孩子患有婴儿期起病的进行性遗传性痉挛性截瘫。
