Silver Russel syndrome in an Aboriginal patient from Australia
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 Abor...
| Main Authors: | , , , , , , , , , , , , , , |
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| Format: | Journal Article |
| Language: | English |
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WILEY
2018
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| Subjects: | |
| Online Access: | http://hdl.handle.net/20.500.11937/83805 |
| _version_ | 1848764604993241088 |
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| author | Poulton, C. Azmanov, D. Atkinson, V. Beilby, J. Ewans, L. Gration, D. Dreyer, L. Shetty, V. Peake, C. McCormack, E. Palmer, Richard Lewis, B. Dawkins, H. Broley, S. Baynam, G. |
| author_facet | Poulton, C. Azmanov, D. Atkinson, V. Beilby, J. Ewans, L. Gration, D. Dreyer, L. Shetty, V. Peake, C. McCormack, E. Palmer, Richard Lewis, B. Dawkins, H. Broley, S. Baynam, G. |
| author_sort | Poulton, C. |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | 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. |
| first_indexed | 2025-11-14T11:22:00Z |
| format | Journal Article |
| id | curtin-20.500.11937-83805 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| language | English |
| last_indexed | 2025-11-14T11:22:00Z |
| publishDate | 2018 |
| publisher | WILEY |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-838052024-04-19T07:56:20Z Silver Russel syndrome in an Aboriginal patient from Australia Poulton, C. Azmanov, D. Atkinson, V. Beilby, J. Ewans, L. Gration, D. Dreyer, L. Shetty, V. Peake, C. McCormack, E. Palmer, Richard Lewis, B. Dawkins, H. Broley, S. Baynam, G. Science & Technology Life Sciences & Biomedicine Genetics & Heredity Aboriginal IGF2 macrocephaly Silver-Russel syndrome IGF2 MUTATION 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. 2018 Journal Article http://hdl.handle.net/20.500.11937/83805 10.1002/ajmg.a.40502 English WILEY restricted |
| spellingShingle | Science & Technology Life Sciences & Biomedicine Genetics & Heredity Aboriginal IGF2 macrocephaly Silver-Russel syndrome IGF2 MUTATION Poulton, C. Azmanov, D. Atkinson, V. Beilby, J. Ewans, L. Gration, D. Dreyer, L. Shetty, V. Peake, C. McCormack, E. Palmer, Richard Lewis, B. Dawkins, H. Broley, S. Baynam, G. Silver Russel syndrome in an Aboriginal patient from Australia |
| title | Silver Russel syndrome in an Aboriginal patient from Australia |
| title_full | Silver Russel syndrome in an Aboriginal patient from Australia |
| title_fullStr | Silver Russel syndrome in an Aboriginal patient from Australia |
| title_full_unstemmed | Silver Russel syndrome in an Aboriginal patient from Australia |
| title_short | Silver Russel syndrome in an Aboriginal patient from Australia |
| title_sort | silver russel syndrome in an aboriginal patient from australia |
| topic | Science & Technology Life Sciences & Biomedicine Genetics & Heredity Aboriginal IGF2 macrocephaly Silver-Russel syndrome IGF2 MUTATION |
| url | http://hdl.handle.net/20.500.11937/83805 |