Human Genome Variation (Apr 2022)

Expanding the PURA syndrome phenotype with manifestations in a Japanese female patient

  • Yuya Fukuda,
  • Yoshimasa Kudo,
  • Makoto Saito,
  • Tadashi Kaname,
  • Tohru Oota,
  • Reikichi Shoji

DOI
https://doi.org/10.1038/s41439-022-00189-7
Journal volume & issue
Vol. 9, no. 1
pp. 1 – 5

Abstract

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Abstract We report on a 15-year-old Japanese female patient with hypotonia and global developmental delay from the neonatal period who was revealed to carry a known pathogenic PURA variant (NM_005859.5:c.697_699del, p.Phe233del) by whole-exome sequencing. She had previously unreported clinical features, including a rectovestibular fistula, extremely short stature, and underweight, expanding the known phenotype of PURA syndrome.