In 3 families diagnosed with MFS, we identified independent heterozygous frameshift mutations of FBN1
In this report, we describe two patients with molecular defects in FBN1
leading to severe short stature which was resistant to GH treatment.
Faivre et al., "Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1
gene," European Journal of Human Genetics, vol.
TABLE I CLINICAL CHARACTERISTICS OF PATIENTS WITH C.3037G>A MUTATION IN FBN1
Collod-Beroud et al., "Prognosis factors in probands with an FBN1
mutation diagnosed before the age of 1 year," Pediatric Research, vol.
In case of FBN1
regulation region, we studied four parts of regulation region indicated as FBN1(1), FBN1(2), FBN1(3.3), and FBN1(3.1).
El sindrome de Marfan (SM; OMIM 154700) es un trastorno sistemico del tejido conectivo, de tipo autosomico dominante, causado por mutaciones en la proteina de la matriz extracelular fibrilina 1 (FBN1
For example, the fibrillin-2 gene (FBN2; MIM 121050) on human chromosome 5q23-q31 shares a high degree of homology with FBN1
(Mizuguchi and Matsumoto, 2007).
Transmission of Marfan syndrome is as an autosomal dominant trait, and is caused by mutations in FBN1
, the gene encoding the microfibrillar protein, fibrillin-1 [De Coster et al., 2002].
Atualmente o diagnostico clinico e o unico meio que pode determinar se o sujeito e portador da Sindrome de Marfan, uma vez que o teste laboratorial negativo para o FBN1
nao exclui o diagnostico (Hendriksen e Christensen, 1998; Murray e Jacobson, 1982; Caffey, 1982).
Marfan syndrome almost always occurs because of a mutation in the gene (FBN1
) that encodes the protein fibrillin.
MEN-2) Hereditary hemochromatosis HFE (C282Y, H63D) Familial adenomatous APC polyposis of the colon Cystic fibrosis CFTR Canavan disease ASPA Fragile X syndrome FMR1 Alpha-1-antitrypsin PI (ATT) deficiency Neurofibromatosis NF 1, NF 2 Marfan's syndrome FBN1
Osteogenesis imperfecta COL1A1, COL1A2 types I-IV Myotonic dystrophy DM 1 Adult polycystic kidney PKD1, PKD2, PKHD1 disease DISEASE INCIDENCE/PREVALENCE Huntington's disease 1 in 1,000 (carriers); 30,000 have the disease RET oncogene (multiple Approximately 200 new cases endocrine neoplasia type-2.