Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 Oct 1;30(4):194-196.
doi: 10.1097/MCD.0000000000000375.

Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1

José Ramón Fernández-Fructuoso  1 , Cristina De la Torre-Sandoval  2 , Madeleine D Harbison  3 , Sandra Chantot-Bastaraud  4 , Karen Temple  5 , Jose Maria Lloreda-Garcia  1 , Maria Olmo-Sanchez  1 , Irene Netchine  6
Affiliations

Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1

José Ramón Fernández-Fructuoso et al. Clin Dysmorphol. .

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.

PubMed Disclaimer

References

    1. Abi Habib W, Brioude F, Edouard T, Bennett JT, Lienhardt-Roussie A, Tixier F, et al. (2018). Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction. Genet Med 20:250–258.
    1. Azzi S, Salem J, Thibaud N, Chantot-Bastaraud S, Lieber E, Netchine I, Harbison MD (2015). A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome. J Med Genet 52:446–453.
    1. Gicquel C, Rossignol S, Cabrol S, Houang M, Steunou V, Barbu V, et al. (2005). Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet 37:1003–1007.
    1. Ingley E (2012). Functions of the Lyn tyrosine kinase in health and disease. Cell Commun Signal 10:21.
    1. Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, et al.; Exome Aggregation Consortium (2016). Analysis of protein-coding genetic variation in 60,706 humans. Nature 536:285–291.

LinkOut - more resources