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Silver Russell syndrome in a  preterm girl with 8q12.1 deletion encompassing PLAG1.
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  • José Ramón Fernández-Fructuoso,
  • Cristina De la Torre-Sandoval,
  • Madeleine Harbison,
  • Sandra Chantot-bastaraud,
  • I. Temple,
  • Jose Maria Lloreda-Garcia,
  • Maria Olmo-Sanchez,
  • Professor Irene Netchine
José Ramón Fernández-Fructuoso
Hospital Universitario General de Santa Lucia
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Cristina De la Torre-Sandoval
Hospital Universitario General de Santa Lucia
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Madeleine Harbison
Ichan School of Medicine at Mount Sinai
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Sandra Chantot-bastaraud
UF de Génétique Chromosomique, Hôpital Armand-Trousseau, APHP, Paris, 75012, France
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I. Temple
Southampton University Hospitals NHS Trust
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Jose Maria Lloreda-Garcia
Hospital Universitario General de Santa Lucia
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Maria Olmo-Sanchez
Hospital Universitario General de Santa Lucia
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Professor Irene Netchine
Hôpital Trousseau, INSERM U938, UPMC, Paris 6, France
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Abstract

Silver Russell syndrome (SRS) is a congenital disorder characterised 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 IGF2 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. 
This manuscript has been accepted for publication in "Clinical Dysmorphology".
A link to the manuscript in journal site will be posted when published.