Four novel GALC gene mutations in two Chinese patients with Krabbe disease |
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| Authors: | Yao Yang Xiaotun Ren Quangang Xu Chunzhi Wang Haihong Liu Xiyu He |
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| Affiliation: | 1. Department of Clinical Genetics, Bayi Children''s Hospital Affiliated to General Hospital of Beijing Military Region, Beijing, China;2. Department of Neurology, Bayi Children''s Hospital Affiliated to General Hospital of Beijing Military Region, Beijing, China;3. Department of Neurology, General Hospital of People''s Liberation Army, Beijing, China |
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| Abstract: | Krabbe disease (OMIM #245200) 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. |
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| Keywords: | DWI, diffusion weighted imaging EEG, electroencephalography GALC, galactocerebrosidase MRI, magnetic resonance imaging LC&ndash MS/MS, liquid chromatography&ndash tandem mass spectrometry |
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