Glu274Lys/Gly309Arg Mutation of the Tissue-Nonspecific Alkaline Phosphatase Gene in Neonatal Hypophosphatasia Associated with Convulsions

@article{Litmanovitz2004Glu274LysGly309ArgMO,
  title={Glu274Lys/Gly309Arg Mutation of the Tissue-Nonspecific Alkaline Phosphatase Gene in Neonatal Hypophosphatasia Associated with Convulsions},
  author={I. Litmanovitz and O. Reish and T. Dolfin and S. Arnon and R. Regev and G. Grinshpan and M. Yamazaki and K. Ozono},
  journal={Journal of Inherited Metabolic Disease},
  year={2004},
  volume={25},
  pages={35-40}
}
We describe a patient diagnosed with lethal perinatal hypophosphatasia with a unique clinical presentation of convulsions that responded to vitamin B6. Genomic DNA sequence analysis of the tissue-nonspecific alkaline phosphatase (TNSALP) gene revealed two missense mutations: a G-to-A transition resulting in a Glu to Lys at codon 274 (E274K), and a G-to-C transversion resulting in a Gly to Arg at codon 309 (G309R). The first mutation was maternally transmitted and was previously characterized as… Expand
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TLDR
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  • Medicine, Biology
  • Sub-cellular biochemistry
  • 2015
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Case Report What This Study Adds?
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    TLDR
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