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

doi:10.1038/s41439-022-00211-y

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

Hum Genome Var. 2022 Sep 12;9(1):32. doi: 10.1038/s41439-022-00211-y.

Authors

Atsushi Hattori¹, Torayuki Okuyama^{2

3}, Tetsumin So², Motomichi Kosuga², Keiko Ichimoto⁴, Kei Murayama⁴, Masayo Kagami⁵, Maki Fukami⁵, Yasuyuki Fukuhara²

Affiliations

¹ Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, 157-8535, Japan. hattori-a@ncchd.go.jp.
² Division of Medical Genetics, National Center for Child Health and Development, Tokyo, 157-8535, Japan.
³ Department of Pediatrics and Clinical Genomics, Saitama Medical University, Saitama, 350-0495, Japan.
⁴ Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba, 266-0007, Japan.
⁵ Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, 157-8535, Japan.

Abstract

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.

Abstract

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