Patient with a novel purine-rich element binding protein A mutation

Nobuhiko Okamoto, Hideto Nakao, Tetsuya Niihori, Yoko Aoki

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

There have been several reports on 5q31.3 microdeletion syndrome. The overlapping deleted region includes purine-rich element binding protein A (PURA), which encodes transcriptional activator protein Pur-α. Patients with PURA mutations show moderate to severe neurodevelopmental delay and learning disability. Neonatal hypotonia, respiratory insufficiency, feeding difficulties, and seizures are often seen. Dysmorphic features including myopathic faces are helpful as clinical signs of the diagnosis. We report a patient with a novel PURA mutation detected by whole-exome sequencing. We suggest that PURA abnormality is a recognizable syndrome.

Original languageEnglish
Pages (from-to)201-204
Number of pages4
JournalCongenital Anomalies
Volume57
Issue number6
DOIs
Publication statusPublished - 2017 Nov

Keywords

  • Intellectual disability
  • purine-rich element binding protein A
  • whole-exome sequencing

ASJC Scopus subject areas

  • Medicine(all)

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