A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome

Autor: Viktoriia Sofronova, Yu Fukushima, Mitsuo Masuno, Mami Naka, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Takahito Moriwaki, Rina Iwata, Seigo Terawaki, Yasuko Yamanouchi, Takanobu Otomo
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Human Genome Variation, Vol 9, Iss 1, Pp 1-6 (2022)
Druh dokumentu: article
ISSN: 2054-345X
DOI: 10.1038/s41439-022-00203-y
Popis: Coffin-Siris syndrome: New mutation implicated Genomic sequencing has revealed a new causative mutation for Coffin-Siris syndrome (CSS), a very rare disease characterized by developmental delays, intellectual disability and various anatomical abnormalities. A team from Japan led by Takanobu Otomo of Kawasaki Medical School in Kurashiki performed genetic sequencing on a young boy who showed many hallmark features of CSS. The researchers identified a previously undescribed mutation in ARID1B, a gene previously linked to the disease. The mutation introduced a premature stop signal into the ARID1B gene transcript. The boy’s cells responded to the genetic defect by activating two kinds of RNA surveillance mechanisms: one that helped eliminate the faulty transcript, and another designed to alter splicing patterns. The findings could help the medical community diagnosis other cases of CSS and ultimately find treatments.
Databáze: Directory of Open Access Journals
Externí odkaz: