Silver Russel syndrome in an aboriginal patient from Australia

Cathryn Poulton, Dimitar Azmanov, Vanessa Atkinson, John Beilby, Lisa Ewans, Dylan Gration, Lauren Dreyer, Vinutha Shetty, Ciara Peake, Emma McCormack, Richard Palmer, Barry Lewis, Hugh Dawkins, Stephanie Broley, Gareth Baynam

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

Silver-Russell syndrome (SRS OMIM 180860) is a rare, albeit well-recognized disorder characterized by severe intrauterine and postnatal growth retardation. It remains a clinical diagnosis with a molecular cause identifiable in approximately 60%–70% of patients. We report a 4-year-old Australian Aboriginal girl who was born at 32 weeks gestation with features strongly suggestive of SRS, after extensive investigation she was referred to our undiagnosed disease program (UDP). Genomic sequencing was performed which identified a heterozygous splice site variant in IGF2 which is predicted to be pathogenic by in-silico studies, paternal allelic origin, de novo status, and RNA studies on fibroblasts. We compare clinical findings with reported patients to add to the knowledge base on IGF2 variants and to promote the engagement of other Australian Aboriginal families in genomic medicine.

Original languageEnglish
Pages (from-to)2561-2563
Number of pages3
JournalAmerican Journal of Medical Genetics, Part A
Volume176
Issue number12
DOIs
Publication statusPublished - 1 Dec 2018

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