Article
Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 gene.
Annals of human genetics - 1 May 2022
Gómez-González Clara, Pizarro-Sánchez Cristina, Rodríguez-Antolín Carlos, Pascual-Pascual Ignacio, Garcia-Romero Mar, Rodriguez-Jiménez Carmen, de Sancho-Martín Rubén, Del Pozo-Mate Ángela, Solís-López Mario, Prior-de Castro Carmen, Torres Rosa J
Abstract excerpt
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. We sequenced 152 genes associated with...
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