Silver Russel syndrome in an aboriginal patient from Australia
MetadataShow full item record
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.
Showing items related by title, author, creator and subject.
Evans, Louis; Cronin, Darryl (2006)OverviewThe Northampton workshop was convened by the Centre for Sustainable Mine Lakes (CSML) and the Central West College of TAFE in association with the Ngalang Boodja Council, Collie. The workshop was conducted at ...
Towards understanding disparities in cancer outcomes for Aboriginal Australians: exploring Aboriginal perceptions and experiences of cancer in Western AustraliaShahid, Shaouli (2010)Cancer has become one of the major chronic diseases among Aboriginal and Torres Strait Islander people of Australia, and was declared a health priority in the National Aboriginal and Torres Strait Islander Health Strategy ...
Identifying barriers and improving communication between cancer service providers and Aboriginal patients and their families: the perspective of service providersShahid, Shaouli; Durey, Angela; Bessarab, Dawn; Aoun, Samar; Thompson, S. (2013)BACKGROUND: Aboriginal Australians experience poorer outcomes from cancer compared to the non-Aboriginal population. Some progress has been made in understanding Aboriginal Australians’ perspectives about cancer and their ...