A 79-kb paternally inherited 7q32.2 microdeletion involving MEST in a patient with a Silver-Russell syndrome-like phenotype

Krista Marie Vincent; Dimitri J Stavropoulos; Melanie Beaulieu-Bergeron; Chen Yang; Mary Jiang; Caroline Zuijdwijk; David A Dyment; Gail E Graham

doi:10.1002/ajmg.a.62782

A 79-kb paternally inherited 7q32.2 microdeletion involving MEST in a patient with a Silver-Russell syndrome-like phenotype

Am J Med Genet A. 2022 Aug;188(8):2421-2428. doi: 10.1002/ajmg.a.62782. Epub 2022 May 20.

Authors

Krista Marie Vincent^{1

2}, Dimitri J Stavropoulos³, Melanie Beaulieu-Bergeron^{1

2}, Chen Yang^{4

5}, Mary Jiang^{2

6}, Caroline Zuijdwijk^{2

6}, David A Dyment^{1

2}, Gail E Graham^{1

2}

Affiliations

¹ Department of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
² Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.
³ Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
⁴ Department of Pediatrics, Michigan Medicine, University of Michigan, Ann Arbor, Michigan, USA.
⁵ Department of Pathology, Michigan Medicine, University of Michigan, Ann Arbor, Michigan, USA.
⁶ Division of Endocrinology and Metabolism, Children's Hospital of Eastern Ontario, Ottawa, Canada.

PMID: 35593535
DOI: 10.1002/ajmg.a.62782

Abstract

Maternal uniparental disomy of human chromosome 7 [upd(7)mat] is well-characterized as a cause of the growth disorder Silver-Russell syndrome (SRS). However, the causative gene is not currently known. There is growing evidence that molecular changes at the imprinted MEST region in 7q32.2 are associated with a phenotype evocative of SRS. This report details a patient with a SRS-like phenotype and a paternally inherited microdeletion of 79 kilobases (35-fold smaller than the previously reported smallest deletion) in the 7q32.2 region. This microdeletion encompasses only five genes, including MEST, which corroborates the hypothesis that MEST plays a central role in the 7q32.2 microdeletion growth disorder, as well as further implicating MEST in upd(7)mat SRS itself.

Keywords: 7q32.2 microdeletion; Russell-Silver syndrome; Silver-Russell syndrome; upd(7)mat.

Publication types

Case Reports

MeSH terms

Chromosomes, Human, Pair 7 / genetics
Genomic Imprinting
Growth Disorders / genetics
Humans
Paternal Inheritance
Phenotype
Silver-Russell Syndrome* / diagnosis
Silver-Russell Syndrome* / genetics
Uniparental Disomy / genetics