title: Novel frameshift mutation (Pro171fsX21) in neonatal type 2 Gaucher's disease.
abstract: 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.
authors: Department of Pediatrics, Konkuk University Hospital, Konkuk University School of Medicine, Korea. hwwoman@naver.com
authors: Hye Won
authors: HW
authors: Park
authors: Yonghee
authors: Y
authors: Lee
authors: Gu-Hwan
authors: GH
authors: Kim
authors: Byong Sop
authors: BS
authors: Lee
authors: Ki Soo
authors: KS
authors: Kim
authors: Han-Wook
authors: HW
authors: Yoo
authors: Ellen Ai-Rhan
authors: EA
authors: Kim
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000235:genetics; D005091:Exons; D016368:Frameshift Mutation; D005776:Gaucher Disease / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics*; D005962:Glucosylceramidase / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D008297:Male; D008969:Molecular Sequence Data; D017384:Sequence Deletion
chemical_list: D018076:DNA, Complementary; D005962:Glucosylceramidase