Publications about genetic testing for neurological disorders
  1. A variant in NUDT2 causes a recessive neurodevelopmental disorder

A variant in NUDT2 causes a recessive neurodevelopmental disorder

Halenur Yavuz 1 Aida M. Bertoli-Avella, MD 1 Majid Alfadhel, MD 2 Nouriya Al-Sannaa 3 Krishna Kumar Kandaswamy, PhD 1 W Al-Tuwaijri 2 Prof. Arndt Rolfs, MD 1, 4 Oliver Brandau, MD 1 Prof. Peter Bauer, MD 1
1 CENTOGENE AG 2 King Saud bin Abdulaziz University for Health Sciences Riyadh 3 John Hopkins Aramco Health Care 4 University of Rostock
July 30, 2018

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.