1型唾液酸沉积症伴神经氨酸酶-1（NEU1）基因新突变
Sialidosis Type 1 with a Novel Mutation in the Neuraminidase-1 (NEU1) Gene.
作者信息
Gowda Vykuntaraju K, Srinivasan Varun M, Benakappa Naveen, Benakappa Asha
机构信息
Department of Pediatrics, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India.
Bangalore Child Neurology and Rehabilitation Center, No 8/A, First Cross, First Main, Near Adhichunchanagiri Choultry, Vijayanagar, Bangalore, Karnataka, 560104, India.
出版信息
Indian J Pediatr. 2017 May;84(5):403-404. doi: 10.1007/s12098-016-2286-9. Epub 2017 Jan 31.
A patient with Sialidosis type 1 with a novel variation in neuraminidase-1 (NEU1) is described. The patient developed ataxia and myoclonus at 9 y of age. He was born to a second degree consanguineous marriage couple. On examination child had cerebellar signs and bilateral macular cherry-red spots. MRI of the brain and electroencephalogram were normal. The enzyme analysis revealed deficiency of neuraminidase. Genetic analysis identified novel homozygous missense mutation c.742G > T (p.G248C) in exon 4 of NEU1 gene. At 13 y of age, the ataxia and had myoclonus progressed.
描述了一名1型唾液酸沉积症患者，其神经氨酸酶-1（NEU1）存在新的变异。该患者9岁时出现共济失调和肌阵挛。他的父母是二级近亲结婚。检查发现患儿有小脑体征和双侧黄斑樱桃红斑。脑部MRI和脑电图正常。酶分析显示神经氨酸酶缺乏。基因分析在NEU1基因外显子4中鉴定出新型纯合错义突变c.742G>T（p.G248C）。13岁时，共济失调和肌阵挛病情进展。
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