A Variant in NUDT2 Causes a Recessive Neurodevelopmental Disorder

A Founder Nonsense Variant in NUDT2 Causes a Recessive Neurodevelopmental Disorder in Saudi Arab Children

Abstract

We identified the homozygous p.Arg12* variant in 5 patients with neurodevelopmental delay, but variation databases list many truncating heterozygous variants for this small 2‐exon gene. As most of these affect the protein’s C‐terminus, loss‐of‐function mediated pathogenicity may be confined to bi‐allelic truncating variants in exon 1 (nonsense‐mediated decay!) or in the catalytically active Nudix box.

Authors

  • Halenur Yavuz
  • Aida M. Bertoli-Avella , MD
  • Majid Alfadhel , MD
  • Nouriya Al-Sannaa
  • Krishna Kumar Kandaswamy , PhD
  • W Al-Tuwaijri
  • Prof. Arndt Rolfs , MD
  • Oliver Brandau , MD
  • Dr. Peter Bauer , MD

Topics

Tagged as
  • Developmental delay
  • Intellectual disability
  • Hypotonia

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