title: Four novel GALC gene mutations in two Chinese patients with Krabbe disease.
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.
authors: Department of Clinical Genetics, Bayi Children's Hospital Affiliated to General Hospital of Beijing Military Region, Beijing, China.
authors: Yao
authors: Y
authors: Yang
authors: Xiaotun
authors: X
authors: Ren
authors: Quangang
authors: Q
authors: Xu
authors: Chunzhi
authors: C
authors: Wang
authors: Haihong
authors: H
authors: Liu
authors: Xiyu
authors: X
authors: He
mesh_terms: D000328:Adult; D017668:Age of Onset; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D005260:Female; D005698:Galactosylceramidase / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007223:Infant; D007965:Leukodystrophy, Globoid Cell / Q000201:enzymology* / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D017384:Sequence Deletion
chemical_list: D005698:Galactosylceramidase