Affiliation: New South Wales
- Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive diseaseTony Roscioli
Centre for Vascular Research, University of New South Wales, Sydney 2052, Australia
Nat Genet 38:620-2. 2006..This is the first report of the involvement of a nuclear body protein in a human primary immunodeficiency and of high-penetrance genetic mutations in hepatic veno-occlusive disease...
- The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotypeTony Roscioli
Queensland Clinical Genetics Service, Herston, Brisbane, Queensland, Australia
Am J Med Genet A 124:136-41. 2004..Further investigations are in progress to identify the gene within the SHFM3 critical region responsible for ectrodactyly...
- The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110Simon T Cliffe
Centre for Vascular Research, University of New South Wales, Sydney, Australia
Prenat Diagn 27:674-6. 2007..DNA testing detected a homozygous truncating mutation in exon 5; SP110 c.642delC. Prenatal testing was offered to this family in a subsequent pregnancy...
- A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotypeJulie McGaughran
Queensland Clinical Genetics Service, Royal Children s Hospital, Herston, Brisbane 4029, Queensland, Australia
Clin Dysmorphol 15:89-93. 2006..Mutation analysis was undertaken and demonstrated the FGFR2 Y375C mutation. This case, one of only nine with molecular analysis, confirms the significant morbidity associated with this syndrome...
- Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutationAndreas Zankl
Genetic Health Queensland, Royal Children s Hospital, Brisbane, Australia
Am J Med Genet A 146:212-8. 2008..Clinical-radiological characteristics of all reported cases of SADDAN are reviewed and discussed...
- Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasiaValentine J Hyland
Department of Surgery, University of Queensland, Royal Brisbane Hospital, Herston Hospitals Campus, Brisbane, Australia
Am J Med Genet A 120:157-68. 2003..These findings confirm the proposita to be a somatic and germline mosaic for this particular missense mutation in FGFR3. Thus far, all reported FGFR3 R248C mutations have resulted in thanatophoric dysplasia type I (TDI)...
- Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcificationFrank Rutsch
Department of Medicine, Veterans Affairs Medical Center, University of California San Diego, 3350 La Jolla Village Drive, La Jolla, California 92161, USA
Nat Genet 34:379-81. 2003..This cell surface enzyme generates inorganic pyrophosphate (PP(i)), a solute that regulates cell differentiation and serves as an essential physiologic inhibitor of calcification...
- The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutationAlexandra Varol
Department of Dermatology, Liverpool Hospital, New South Wales, Australia
Australas J Dermatol 47:274-6. 2006..This case highlights the need to consider the possibility of renal and uterine cancer in members of cutaneous leiomyomatosis families...
- Pfeiffer syndrome with neonatal death secondary to tracheal obstruction owing to the FGFR2 Glu565Ala mutationLucinda Freeman
Sydney South West Genetic Service, SEALS Molecular and Cytogenetics Laboratory, Sydney, NSW, Australia
Clin Dysmorphol 17:223-4. 2008