Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome

Atsushi Hattori,Torayuki Okuyama,Tetsumin So,Motomichi Kosuga,Keiko Ichimoto,Kei Murayama,Masayo Kagami,Maki Fukami,Yasuyuki Fukuhara

HUMAN GENOME VARIATION（2022）

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摘要

We 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.

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关键词

Genetics research,Imprinting,Medical genetics,Mutation,Biomedicine,general,Human Genetics,Molecular Medicine,Gene Function,Gene Expression,Gene Therapy

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