Novel frameshift mutation (Pro171fsX21) in neonatal type 2 Gaucher's disease

Gaucher's disease is caused by a deficiency of glucocerebrosidase (GBA) and results in the accumulation of glucocerebroside within macrophages. We report on a 33+ 2 gestational week premature infant whose family history was significant for a previously undiagnosed premature sibling with similar clinical features, including severe hydrops fetalis, hepatosplenomegaly, skin lesions at birth followed by death. The diagnosis of Gaucher's disease type 2 in the present case was based on postmortem pathological findings and a subsequent gene analysis that indicated a heterozygous condition for the novel deletion mutation at GBA cDNA nucleotide position 630 resulting in the frameshift (Pro171fsX21) in exon 6 and a G→A transition mutation at GBA cDNA nucleotide position 887 (Arg257Gln) in exon 7.

► Patient with type 2 Gaucher's disease showed hydrops fetalis and icthyosis at birth.
► Novel frameshift mutation (Pro171fsX21) at glucocerebrosidase was found.
► Patient was heterozygous for a frameshift in exon 6 and transition in exon 7 at GBA.