Four novel GALC gene mutations in two Chinese patients with Krabbe disease

详细信息    查看全文

• 作者：Yao Yang^a ; ¹ ; Xiaotun Ren^b ; ¹ ; Quangang Xu^c ; Chunzhi Wang^a ; Haihong Liu^a ; Xiyu He^a ; ^{hxyjs2001@yahoo.com.cn}
• 关键词：DWI ; diffusion weighted imaging ; EEG ; electroencephalography ; GALC ; galactocerebrosidase ; MRI ; magnetic resonance imaging ; LC&ndash ; MS/MS ; liquid chromatography&ndash ; tandem mass spectrometry
• 刊名：Gene
• 出版年：2013
• 出版时间：1 May, 2013
• 年：2013
• 卷：519
• 期：2
• 页码：381-384
• 全文大小：875 K

文摘

Krabbe disease (OMIM #) is a rare autosomal recessive leukodystrophy caused by deficiency of galactocerebrosidase (GALC) activity. We identified four novel mutations of the GALC gene in two unrelated Chinese families with Krabbe disease: one insertion mutation, c.1836_1837insT, and one nonsense mutation, c.599C>A (p.S200X), in an infantile patient, and one deletion mutation, c.1911+1_1911+5delGTAAG, and one missense mutation, c.2041G>A, in an adult late-onset patient. This is the first identification of GALC mutations in the Chinese population.