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

Authors
Park, HW; Lee, Y; Kim, GH; Lee, BS; Kim, KS; Yoo, HW; Kim, EA
Citation
Gene, 507(2):170-173, 2012
Journal Title
Gene
ISSN
0378-11191879-0038
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.
MeSH terms
Base SequenceDNA Mutational AnalysisDNA, Complementary/geneticsExons*Frameshift MutationGaucher Disease/diagnosis/*enzymology/*geneticsGlucosylceramidase/*geneticsHeterozygoteHumansInfant, NewbornInfant, PrematureMaleMolecular Sequence DataSequence Deletion
DOI
10.1016/j.gene.2012.06.090
PMID
22772462
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Pathology
AJOU Authors
이, 용희
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