biostudies-literatureUnknown9(1)Fukuda YWe 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.Human genome variation11https://www.ebi.ac.uk/biostudies/studies/S-EPMC9019084biostudies-literatureExpanding the PURA syndrome phenotype with manifestations in a Japanese female patient.PMC9019084Oota TShoji RKudo YKaname TSaito MFukuda YfalseExpanding the PURA syndrome phenotype with manifestations in a Japanese female patient.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.2022-01-01T00:00:00Z2022 Apr2025-04-20T03:09:05.931Z2025-02-19T01:10:19.127ZS-EPMC90190843544057610.1038/s41439-022-00189-7