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Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene.

Brain & development - 1 Feb 2021

Niba Emma Tabe Eko, Nishio Hisahide, Wijaya Yogik Onky Silvana, Lai Poh San, Tozawa Takenori, Chiyonobu Tomohiro, Yamadera Misaki, Okamoto Kentaro, Awano Hiroyuki, Takeshima Yasuhiro, Saito Toshio, Shinohara Masakazu

Abstract excerpt

BACKGROUND: Spinal muscular atrophy (SMA) is a neuromuscular disease caused by homozygous deletion of SMN1 exons 7 and 8. However, exon 8 is retained in some cases, where SMN2 exon 7 recombines with SMN1 exon 8, forming a hybrid SMN gene. It remains unknown how the hybrid SMN gene contribute to the SMA phenotype. METHOD: We analyzed 515 patients with clinical suspicion for SMA. SMN1 exons 7 and 8 deletion was...

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Identifiers

PMID: 33036822
DOI: 10.1016/j.braindev.2020.09.005

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