RGD Reference Report - Heterozygous TGFBR2 mutations in Marfan syndrome. - Rat Genome Database

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Heterozygous TGFBR2 mutations in Marfan syndrome.

Authors: Mizuguchi, T  Collod-Beroud, G  Akiyama, T  Abifadel, M  Harada, N  Morisaki, T  Allard, D  Varret, M  Claustres, M  Morisaki, H  Ihara, M  Kinoshita, A  Yoshiura, K  Junien, C  Kajii, T  Jondeau, G  Ohta, T  Kishino, T  Furukawa, Y  Nakamura, Y  Niikawa, N  Boileau, C  Matsumoto, N 
Citation: Mizuguchi T, etal., Nat Genet. 2004 Aug;36(8):855-60. Epub 2004 Jul 4.
RGD ID: 1579928
Pubmed: PMID:15235604   (View Abstract at PubMed)
PMCID: PMC2230615   (View Article at PubMed Central)
DOI: DOI:10.1038/ng1392   (Journal Full-text)

Marfan syndrome is an extracellular matrix disorder with cardinal manifestations in the eye, skeleton and cardiovascular systems associated with defects in the gene encoding fibrillin (FBN1) at 15q21.1 (ref. 1). A second type of the disorder (Marfan syndrome type 2; OMIM 154705) is associated with a second locus, MFS2, at 3p25-p24.2 in a large French family (family MS1). Identification of a 3p24.1 chromosomal breakpoint disrupting the gene encoding TGF-beta receptor 2 (TGFBR2) in a Japanese individual with Marfan syndrome led us to consider TGFBR2 as the gene underlying association with Marfan syndrome at the MSF2 locus. The mutation 1524G-->A in TGFBR2 (causing the synonymous amino acid substitution Q508Q) resulted in abnormal splicing and segregated with MFS2 in family MS1. We identified three other missense mutations in four unrelated probands, which led to loss of function of TGF-beta signaling activity on extracellular matrix formation. These results show that heterozygous mutations in TGFBR2, a putative tumor-suppressor gene implicated in several malignancies, are also associated with inherited connective-tissue disorders.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Marfan syndrome susceptibilityIAGP 1579928DNA:point mutation and missense mutations: :multipleRGD 
Marfan syndrome susceptibilityISOTGFBR2 (Homo sapiens)1579928; 1579928DNA:point mutation and missense mutations: :multipleRGD 

Objects Annotated

Genes (Rattus norvegicus)
Tgfbr2  (transforming growth factor, beta receptor 2)

Genes (Mus musculus)
Tgfbr2  (transforming growth factor, beta receptor II)

Genes (Homo sapiens)
TGFBR2  (transforming growth factor beta receptor 2)


Additional Information