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

Karin KojimaTakahito WadaHiroko ShimboTakahiro IkedaEriko F JimboHirotomo SaitsuNaomichi MatsumotoTakanori Yamagata
Published in: Human genome variation (2022)
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.
Keyphrases
  • intellectual disability
  • case report
  • autism spectrum disorder
  • copy number
  • photodynamic therapy
  • gene expression
  • dna damage response
  • dna damage
  • oxidative stress
  • amino acid
  • sickle cell disease
  • protein protein