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Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome
Human Genome Variation ( IF 1.0 ) Pub Date : 2022-09-12 , DOI: 10.1038/s41439-022-00211-y Atsushi Hattori 1 , Torayuki Okuyama 2, 3 , Tetsumin So 2 , Motomichi Kosuga 2 , Keiko Ichimoto 4 , Kei Murayama 4 , Masayo Kagami 1 , Maki Fukami 1 , Yasuyuki Fukuhara 2
中文翻译：
精氨基琥珀酸尿症和 Silver-Russell 综合征的 7 号染色体母体单亲二体
更新日期：2022-09-12
Human Genome Variation ( IF 1.0 ) Pub Date : 2022-09-12 , DOI: 10.1038/s41439-022-00211-y Atsushi Hattori 1 , Torayuki Okuyama 2, 3 , Tetsumin So 2 , Motomichi Kosuga 2 , Keiko Ichimoto 4 , Kei Murayama 4 , Masayo Kagami 1 , Maki Fukami 1 , Yasuyuki Fukuhara 2
Affiliation
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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.
中文翻译：
精氨基琥珀酸尿症和 Silver-Russell 综合征的 7 号染色体母体单亲二体
我们描述了一名患有精氨基琥珀酸尿症和 Silver-Russell 综合征 (SRS) 的患者。SRS 是由 7 号染色体的母体单亲二体 (UPD(7)mat) 引起的。UPD(7)mat 还揭示了7 号染色体上ASL中的母系遗传剪接变体，导致精氨基琥珀酸尿症的发作。本病例的表型比之前的病例更严重，表明精氨基琥珀酸尿症和 SRS 的组合存在表型变异。
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