Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1
Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1
Silver Russell syndrome (SRS) is a congenital disorder characterized by intrauterine growth retardation (IUGR), feeding difficulties and postnatal growth retardation. In a small number of cases, PLAG1 variants have been described (OMIM #618907). PLAG1 haploinsufficiency decreases Insulin-like growth factor 2 expression and produces a Silver Russell syndrome-like phenotype. Here, we describe the phenotype and molecular features of a 26 months girl with clinical features of SRS, and a de novo 2.1 Mb deletion encompassing PLAG1 is reported in association with clinical features suggestive of SRS.
194-196
Fernández-fructuoso, José Ramón
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De La Torre-sandoval, Cristina
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Harbison, Madeleine D.
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Chantot-bastaraud, Sandra
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Temple, Karen
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Lloreda-garcia, Jose Maria
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Olmo-sanchez, Maria
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Netchine, Irene
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1 October 2021
Fernández-fructuoso, José Ramón
fdf211eb-355d-482b-9aa1-29bd5d79a84b
De La Torre-sandoval, Cristina
5230b568-09cd-41ef-96bf-626fbfa1cd61
Harbison, Madeleine D.
4e3a1b17-4a9c-48e5-96cd-0f1d943f046e
Chantot-bastaraud, Sandra
61d5b746-6e6e-48ed-aecf-f20f00882afa
Temple, Karen
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Lloreda-garcia, Jose Maria
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Olmo-sanchez, Maria
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Netchine, Irene
d7e05c28-b3a7-46e2-96fb-32cf818067b0
Fernández-fructuoso, José Ramón, De La Torre-sandoval, Cristina, Harbison, Madeleine D., Chantot-bastaraud, Sandra, Temple, Karen, Lloreda-garcia, Jose Maria, Olmo-sanchez, Maria and Netchine, Irene
(2021)
Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1.
Clinical Dysmorphology, 30 (4), .
(doi:10.1097/MCD.0000000000000375).
Abstract
Silver Russell syndrome (SRS) is a congenital disorder characterized by intrauterine growth retardation (IUGR), feeding difficulties and postnatal growth retardation. In a small number of cases, PLAG1 variants have been described (OMIM #618907). PLAG1 haploinsufficiency decreases Insulin-like growth factor 2 expression and produces a Silver Russell syndrome-like phenotype. Here, we describe the phenotype and molecular features of a 26 months girl with clinical features of SRS, and a de novo 2.1 Mb deletion encompassing PLAG1 is reported in association with clinical features suggestive of SRS.
Text
Silver Russell syndrome 8q12.1 deletion
- Accepted Manuscript
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Accepted/In Press date: 31 March 2021
Published date: 1 October 2021
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© 2021 Lippincott Williams and Wilkins. All rights reserved.
Copyright:
Copyright 2021 Elsevier B.V., All rights reserved.
Identifiers
Local EPrints ID: 451767
URI: http://eprints.soton.ac.uk/id/eprint/451767
ISSN: 0962-8827
PURE UUID: 55f73794-6bd9-411d-942e-d753a694a35b
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Date deposited: 26 Oct 2021 16:31
Last modified: 17 Mar 2024 06:52
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Contributors
Author:
José Ramón Fernández-fructuoso
Author:
Cristina De La Torre-sandoval
Author:
Madeleine D. Harbison
Author:
Sandra Chantot-bastaraud
Author:
Jose Maria Lloreda-garcia
Author:
Maria Olmo-sanchez
Author:
Irene Netchine
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