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

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.

SUBMITTER: Fukuda Y 

PROVIDER: S-EPMC9019084 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature

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

Fukuda Yuya Y   Kudo Yoshimasa Y   Saito Makoto M   Kaname Tadashi T   Oota Tohru T   Shoji Reikichi R  

Human genome variation 20220419 1

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. ...[more]

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