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:10.1038/s41439-022-00212-x

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

Hum Genome Var. 2022 Sep 14;9(1):33. doi: 10.1038/s41439-022-00212-x.

Authors

Karin Kojima¹, Takahito Wada², Hiroko Shimbo³, Takahiro Ikeda⁴, Eriko F Jimbo⁴, Hirotomo Saitsu⁵, Naomichi Matsumoto⁵, Takanori Yamagata⁴

Affiliations

¹ Department of Pediatrics, Jichi Medical University, 3311-1 Yakushiji, Shimotsuke-shi, Tochigi, 329-0498, Japan. karinkojima@jichi.ac.jp.
² Department of Genomic Medicine, Kyoto University Graduate School of Medicine, Oshida-Konoe-cho, Sakyo-ku, Kyoto, 606-8501, Japan.
³ Department of Neurology, Kanagawa Children's Medical Center, 2-138-4 Mutsukawa, Minami-ku, Yokohama, Kanagawa, 232-8555, Japan.
⁴ Department of Pediatrics, Jichi Medical University, 3311-1 Yakushiji, Shimotsuke-shi, Tochigi, 329-0498, Japan.
⁵ Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, Kanagawa, 236-0004, Japan.

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.

Abstract

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