Expanding the phenotype of spastic paraplegia 26: Report of 4 cases with hearing dysfunction

Abstract

Patient's karyotype was 46,XY. Array Comparative Genomic Hybridization (aCGH), genetic testing for FMR1 and multigene panel for AR HSP were normal. Clinical exome study revealed B4GALNT1 homozygotic pathogenic variant c.682C>T (p.Arg228*).