Abstract
AbstractWe describe a patient presenting with argininosuccinic aciduria and Silver-Russell syndrome (SRS). SRS was caused by maternal uniparental disomy of chromosome 7 (UPD(7)mat). UPD(7)mat also unmasked a maternally inherited splicing variant in ASL on chromosome 7, leading to the onset of argininosuccinic aciduria. The phenotype of the present case was more severe than that of a previous case, demonstrating a phenotypic variation in the combination of argininosuccinic aciduria and SRS.
Funder
MEXT | Japan Society for the Promotion of Science
National Center for Child Health and Development
Takeda Science Foundation
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,Biochemistry
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