Compound heterozygous p.L483P and p.S310G mutations in GBA1 cause type 1 adult Gaucher disease: A case report

Figure 1 Bone marrow cytomorphology. Haematoxylin-eosin stain (magnification: 100 ×).

Figure 2 Family pedigree of the proband. The first-generation members have no information. The second generation is the father of proband is heterozygous for exon 10 c.1448T>C (p.L483P) mutation, and the mother is heterozygous for exon 7 c.928A>G (p.S310G) mutation. The third generation is the proband who was compound heterozygous for p.L483P/p.S310G. Her sister was normal and did not carry either mutation.

Figure 3 DNA sequencing analysis of glucocerebrosidase gene. A and B: Exon 7 c.928A>G (p.S310G) novel heterozygous missense mutation compared to the corresponding wild-type sequence; C and D: Exon 10 c.1448T>C (p.L483P) heterozygous mutation compared to the corresponding wild-type sequence.

Figure 4 Molecular contacts of residue 310. A: Wild-type acid β-glucosidase protein; B: Mutant type.

Figure 5 Molecular contacts of residue 483. A: Wild-type acid β-glucosidase protein; B: Mutant type.