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dc.contributor.authorPoulton, C.
dc.contributor.authorAzmanov, D.
dc.contributor.authorAtkinson, V.
dc.contributor.authorBeilby, J.
dc.contributor.authorEwans, L.
dc.contributor.authorGration, D.
dc.contributor.authorDreyer, L.
dc.contributor.authorShetty, V.
dc.contributor.authorPeake, C.
dc.contributor.authorMcCormack, E.
dc.contributor.authorPalmer, Richard
dc.contributor.authorLewis, B.
dc.contributor.authorDawkins, H.
dc.contributor.authorBroley, S.
dc.contributor.authorBaynam, G.
dc.date.accessioned2021-05-25T01:51:59Z
dc.date.available2021-05-25T01:51:59Z
dc.date.issued2018
dc.identifier.citationPoulton, C. and Azmanov, D. and Atkinson, V. and Beilby, J. and Ewans, L. and Gration, D. and Dreyer, L. et al. 2018. Silver Russel syndrome in an aboriginal patient from Australia. American Journal of Medical Genetics, Part A. 176 (12): pp. 2561-2563.
dc.identifier.urihttp://hdl.handle.net/20.500.11937/83805
dc.identifier.doi10.1002/ajmg.a.40502
dc.description.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.

dc.languageEnglish
dc.publisherWILEY
dc.subjectScience & Technology
dc.subjectLife Sciences & Biomedicine
dc.subjectGenetics & Heredity
dc.subjectAboriginal
dc.subjectIGF2
dc.subjectmacrocephaly
dc.subjectSilver-Russel syndrome
dc.subjectIGF2 MUTATION
dc.titleSilver Russel syndrome in an Aboriginal patient from Australia
dc.typeJournal Article
dcterms.source.volume176
dcterms.source.number12
dcterms.source.startPage2561
dcterms.source.endPage2563
dcterms.source.issn1552-4825
dcterms.source.titleAmerican Journal of Medical Genetics, Part A
dc.date.updated2021-05-25T01:51:58Z
curtin.departmentCurtin School of Allied Health
curtin.accessStatusFulltext not available
curtin.facultyFaculty of Health Sciences
curtin.contributor.orcidPalmer, Richard [0000-0002-1152-9749]
curtin.contributor.researcheridPalmer, Richard [G-3857-2013]
dcterms.source.eissn1552-4833
curtin.contributor.scopusauthoridPalmer, Richard [55606990700]


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