Expanding 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, incl...

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Detalles Bibliográficos
Autores principales: Fukuda, Yuya, Kudo, Yoshimasa, Saito, Makoto, Kaname, Tadashi, Oota, Tohru, Shoji, Reikichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9019084/
https://www.ncbi.nlm.nih.gov/pubmed/35440576
http://dx.doi.org/10.1038/s41439-022-00189-7
Descripción
Sumario: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.

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