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

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. Th...

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Detalles Bibliográficos
Autores principales: Kojima, Karin, Wada, Takahito, Shimbo, Hiroko, Ikeda, Takahiro, Jimbo, Eriko F., Saitsu, Hirotomo, Matsumoto, Naomichi, Yamagata, Takanori
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9474544/
https://www.ncbi.nlm.nih.gov/pubmed/36104326
http://dx.doi.org/10.1038/s41439-022-00212-x
Descripción
Sumario: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.

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