Article
Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene.
American journal of medical genetics. Part A - 1 Dec 2017
Hagege Ermias, Grey Richard J, Lopez Grisel, Roshan Lal Tamanna, Sidransky Ellen, Tayebi Nahid
Abstract excerpt
Gaucher disease (GD) is a recessively inherited autosomal lysosomal storage disease, the most severe of which is type 2, an acute neuronopathic form. We report an affected infant who inherited one mutant allele, Arg257Gln (c.887G>A; p.Arg296Gln) from his father, while the second, Gly202Arg (c.721G>A; p.Gly241Arg) arose by either maternal germline mosaicism or as a de novo mutation. This is the first time mutation...
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