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Pathogenic variants in the AP4B1 gene lead to a rare form of hereditary spastic paraplegia (HSP) known as SPG47. We report on a patient with a clinical suspicion of complicated HSP of the lower limbs with intellectual disability, as well as a novel homozygous noncanonical splice site variant in the AP4B1 gene, in which the effect on splicing was validated by RNA analysis.
Annals of Human Genetics – Wiley
Published: May 1, 2022
Keywords: AP4B1; hereditary spastic paraplegia; mRNA; NGS; splice site
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