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

Autor: Vincent KM; Department of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada., Stavropoulos DJ; Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada., Beaulieu-Bergeron M; Department of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada., Yang C; Department of Pediatrics, Michigan Medicine, University of Michigan, Ann Arbor, Michigan, USA.; Department of Pathology, Michigan Medicine, University of Michigan, Ann Arbor, Michigan, USA., Jiang M; Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.; Division of Endocrinology and Metabolism, Children's Hospital of Eastern Ontario, Ottawa, Canada., Zuijdwijk C; Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.; Division of Endocrinology and Metabolism, Children's Hospital of Eastern Ontario, Ottawa, Canada., Dyment DA; Department of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada., Graham GE; Department of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Aug; Vol. 188 (8), pp. 2421-2428. Date of Electronic Publication: 2022 May 20.
DOI: 10.1002/ajmg.a.62782
Abstrakt: 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.
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Databáze: MEDLINE
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