An integrated approach to management of Marfan syndrome caused by an FBN1 exon 18 mutation in an Australian Aboriginal family

Summers, Kim M.; Xu, Dongming; West, J; McGill, JJ; Galbraith, Anne M.; Whight, C.; Brocque, S. P. Le; Nataatmadja, Maria; Kong, LK; Dondey, Joanne; Stark, Denis; West, MJ

doi:10.1111/j..2004.00186.x

Cited by 13 publications

(16 citation statements)

References 12 publications

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“…Immunohistochemical analysis shows that the microfibrils of MFS patients tend to be disorganized (for example see images in [79,80]), in contrast to the regular fibrillar structures of normal individuals (similar to the image of MG63 cells shown in Fig. 4).…”

Section: Fibrillin-1 Mutationssupporting

confidence: 57%

Structure and function of the mammalian fibrillin gene family: Implications for human connective tissue diseases

Davis

Summers

2012

Molecular Genetics and Metabolism

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Section: Fibrillin-1 Mutationssupporting

confidence: 57%

Structure and function of the mammalian fibrillin gene family: Implications for human connective tissue diseases

Davis

Summers

2012

Molecular Genetics and Metabolism

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“…4,19,20 ). Potential modifier genes for Marfan syndrome are likely to be found in the network of genes that are co-expressed in tissues affected by FBN1 mutation.…”

Section: Introductionmentioning

confidence: 99%

Co-expression of FBN1 with mesenchyme-specific genes in mouse cell lines: implications for phenotypic variability in Marfan syndrome

et al. 2010

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Mutations in the human FBN1 gene cause Marfan syndrome, a complex disease affecting connective tissues but with a highly variable phenotype. To identify genes that might participate in epistatic interactions with FBN1, and could therefore explain the observed phenotypic variability, we have looked for genes that are co-expressed with Fbn1 in the mouse. Microarray expression data derived from a range of primary mouse cells and cell lines were analysed using the network analysis tool BioLayout Express 3D . A cluster of 205 genes, including Fbn1, were selectively expressed by mouse cell lines of different mesenchymal lineages and by mouse primary mesenchymal cells (preadipocytes, myoblasts, fibroblasts, osteoblasts). Promoter analysis of this gene set identified several candidate transcriptional regulators. Genes within this co-expressed cluster are candidate genetic modifiers for Marfan syndrome and for other connective tissue diseases.

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“…We measured arm‐span to height ratio in 14 mutation positive (affected) and 11 mutation negative (unaffected) members of a large Aboriginal Australian family with MFS (genotyping the known familial mutation (NM_000138: c.2261A>G:p.Tyr754Cys)(Summers et al, ). There was no significant difference between the mean arm‐span to height ratio of affected versus unaffected individuals (mean 1.04 [SD 0.02] vs. 1.045 [SD 0.03], p = .53 using unpaired two‐sample t test).…”

Section: Unpaired T‐test Analysis Comparing Stature To Arm‐span In Aumentioning

confidence: 99%

Use of the arm‐span to height ratio as a criterion for Marfan syndrome in Aboriginal Australians: Diagnostically challenging

McInerney-Leo

West

McGill

et al. 2020

American J of Med Genetics Pt A

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An integrated approach to management of Marfan syndrome caused by an FBN1 exon 18 mutation in an Australian Aboriginal family

Cited by 13 publications

References 12 publications

Structure and function of the mammalian fibrillin gene family: Implications for human connective tissue diseases

Structure and function of the mammalian fibrillin gene family: Implications for human connective tissue diseases

Co-expression of FBN1 with mesenchyme-specific genes in mouse cell lines: implications for phenotypic variability in Marfan syndrome

Use of the arm‐span to height ratio as a criterion for Marfan syndrome in Aboriginal Australians: Diagnostically challenging

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