Human Genome Variation (Sep 2022)

The ATRX splicing variant c.21-1G>A is asymptomatic

  • Karin Kojima,
  • Takahito Wada,
  • Hiroko Shimbo,
  • Takahiro Ikeda,
  • Eriko F. Jimbo,
  • Hirotomo Saitsu,
  • Naomichi Matsumoto,
  • Takanori Yamagata

DOI
https://doi.org/10.1038/s41439-022-00212-x
Journal volume & issue
Vol. 9, no. 1
pp. 1 – 4

Abstract

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Abstract The ATRX variant c.21-1G>A was detected by an exome analysis of a patient with Cockayne syndrome without alpha thalassemia X-linked intellectual disability syndrome (ATR-XS). In addition, variants in ERCC6 were detected. ATRX c.21-1G>A is localized at the splicing acceptor site of intron 1. This splicing event, NM_000489.6: c.21_133del p.S7Rfs*1, induces exon 2 deletion and early termination. The start codon in exon 3 of ATRX is presumed to produce a slightly shorter but functional ATRX protein.