Giant axonal neuropathy (GAN) in an 8-year-old girl caused by a homozygous pathogenic splicing variant in GAN gene.
Guo Y, Su Q, Zhu X, Wang J, Lou Y, Miao P, Wang Y, Zhang B, Jin Y, Gao L, Xu X, Chen W, Sheng M, Feng J.
Guo Y, et al. Among authors: sheng m.
Am J Med Genet A. 2022 Mar;188(3):836-846. doi: 10.1002/ajmg.a.62592. Epub 2021 Dec 10.
Am J Med Genet A. 2022.
PMID: 34889507
According to the validation at the cDNA levels, the splicing variant led to the skipping of exon 8 and affected the Kelch domain's formation. Unlike the previously reported cases of GAN, the child's clinical manifestations revealed peripheral nervous system involvem …
According to the validation at the cDNA levels, the splicing variant led to the skipping of exon 8 and affected the Kelch domain's fo …