PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy

@article{Ohba2013PIGNMC,
  title={PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy},
  author={Chihiro Ohba and Nobuhiko Okamoto and Yoshiko Murakami and Yasuhiro Suzuki and Yoshinori Tsurusaki and Mitsuko Nakashima and Noriko Miyake and Fumiaki Tanaka and Taroh Kinoshita and Naomichi Matsumoto and Hirotomo Saitsu},
  journal={neurogenetics},
  year={2013},
  volume={15},
  pages={85-92}
}
Defects of the human glycosylphosphatidylinositol (GPI) anchor biosynthetic pathway show a broad range of clinical phenotypes. A homozygous mutation in PIGN, a member of genes involved in the GPI anchor-synthesis pathway, was previously reported to cause dysmorphic features, multiple congenital anomalies, severe neurological impairment, and seizure in a consanguineous family. Here, we report two affected siblings with compound heterozygous PIGN mutations [c.808T >C (p.Ser270Pro) and c.963G >A… CONTINUE READING

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biochemistry leads the charge

  • Freeze HH Understanding human glycosylation disorders
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