7号染色体单亲二体导致精氨琥珀酸尿症和Silver-Russell综合征的母源单亲二体。
Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome.
作者信息
Hattori Atsushi, Okuyama Torayuki, So Tetsumin, Kosuga Motomichi, Ichimoto Keiko, Murayama Kei, Kagami Masayo, Fukami Maki, Fukuhara Yasuyuki
机构信息
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, 157-8535, Japan.
Division of Medical Genetics, National Center for Child Health and Development, Tokyo, 157-8535, Japan.
出版信息
Hum Genome Var. 2022 Sep 12;9(1):32. doi: 10.1038/s41439-022-00211-y.
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.
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号染色体的母源单亲二倍体（UPD(7)mat）引起的。UPD(7)mat还揭示了7号染色体上ASL基因中一个母系遗传的剪接变异，导致精氨基琥珀酸尿症的发作。本病例的表型比先前病例更严重，表明精氨基琥珀酸尿症和SRS联合存在时的表型变异。
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