Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature

Figure 1 Clinical and genetic information of the patient. A: Pedigree of the family with compound heterozygous neuraminidase 1 (NEU1) mutations; B: Cranial magnetic resonance imaging of the patient demonstrated slight atrophy of bilateral cerebellum; C and E: Normal control sequences; D: Variant in exon 2 (c.239C>T); F: Variant in exon 4 (c.544A>G). Family member I:1 was the carrier of c.239C>T and family member I:2 was the carrier of c.544A>G. Family member II:3 harbored the compound heterozygous NEU1 mutations.