Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations

  title={Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations},
  author={Zheng Wang and Wei-min Zhang and Yun Wang and Yan Ling Meng and Liang Su and Huiping Shi and Shangzhi Huang},
  journal={Journal of Human Genetics},
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a lysosomal storage disease caused by deficiency of N-acetylgalactosamine-6-sulfatase (GALNS) and transmitted as an autosomal recessive trait. This is the first systematic mutation screen in Chinese MPS IVA patients. Mutation detections in 24 unrelated Chinese MPS IVA patients were performed by PCR and direct sequencing of exons or the mRNA of GALNS. A total of 42 mutant alleles were identified, belonging to 27 different mutations. Out… CONTINUE READING