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

Human Genome Variation (Sep 2022)

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

Affiliations

Atsushi Hattori: Department of Molecular Endocrinology, National Research Institute for Child Health and Development
Torayuki Okuyama: Division of Medical Genetics, National Center for Child Health and Development
Tetsumin So: Division of Medical Genetics, National Center for Child Health and Development
Motomichi Kosuga: Division of Medical Genetics, National Center for Child Health and Development
Keiko Ichimoto: Center for Medical Genetics, Department of Metabolism, Chiba Children’s Hospital
Kei Murayama: Center for Medical Genetics, Department of Metabolism, Chiba Children’s Hospital
Masayo Kagami: Department of Molecular Endocrinology, National Research Institute for Child Health and Development
Maki Fukami: Department of Molecular Endocrinology, National Research Institute for Child Health and Development
Yasuyuki Fukuhara: Division of Medical Genetics, National Center for Child Health and Development

DOI: https://doi.org/10.1038/s41439-022-00211-y
Journal volume & issue: Vol. 9, no. 1
pp. 1 – 4

Abstract

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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.

Published in Human Genome Variation

ISSN: 2054-345X (Online)
Publisher: Nature Publishing Group
Country of publisher: United Kingdom
LCC subjects: Science: Biology (General): Genetics; Science: Biology (General): Life
Website: http://www.nature.com/hgv/

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