Whole-exome sequencing identifies compound heterozygous mutations in ARSA of two siblings presented with atypical onset of metachromatic leukodystrophy from a Chinese pedigree.

@article{Wang2016WholeexomeSI,
  title={Whole-exome sequencing identifies compound heterozygous mutations in ARSA of two siblings presented with atypical onset of metachromatic leukodystrophy from a Chinese pedigree.},
  author={Zhihong Wang and Yanhong Lin and De-zhu Zheng and Aizhen Yan and Xiang-dong Tu and Juan Lin and F. Lan},
  journal={Clinica chimica acta; international journal of clinical chemistry},
  year={2016},
  volume={460},
  pages={
          135-7
        }
}
BACKGROUND Metachromatic leukodystrophy (MLD) is a rare inherited lysosomal storage disorder caused mainly by variants in arylsulfatase A (ARSA) gene. MLD can be divided into three major clinical forms according to the age of onset: late infantile, juvenile, and adult. We report two siblings of late infantile MLD presenting with cerebellar ataxia as the only first clinical symptom. METHODS Because of the unspecific neurological manifestation, whole-exome sequencing (WES) was performed to find… Expand

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