Fibrillin I gene polymorphism is associated with tall stature of normal individuals

Mamada, Mitsukazu; Yorifuji, Tohru; Yorifuji, Junko; Kurokawa, Keiji; Kawai, Masahiko; Momoi, Toru; Nakahata, Tatsutoshi

doi:10.1007/s00439-006-0263-5

Cited by 11 publications

(3 citation statements)

References 5 publications

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“…Additionally, of these three SNPs, rs25458 (p.Asn625Asn, c.1875 T > C) is known to cause a same-sense mutation of asparagine in a highly conserved domain of the cb EGF-like #6. Furthermore, a previous study showed that the mutant C allele at Asn625 was significantly overrepresented in the ''tall stature group,'' suggesting that the Asn625 polymorphism is significantly correlated with adult height [12].…”

Section: Discussionmentioning

confidence: 97%

Postmortem diagnosis of Marfan syndrome in a case of sudden death due to aortic rupture: Detection of a novel FBN1 frameshift mutation

Wang

Chen

Wang

et al. 2016

Forensic Science International

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Section: Discussionmentioning

confidence: 97%

Postmortem diagnosis of Marfan syndrome in a case of sudden death due to aortic rupture: Detection of a novel FBN1 frameshift mutation

Wang

Chen

Wang

et al. 2016

Forensic Science International

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“…However, since FBN1 polymorphisms had been associated with tall stature, and isolated scoliosis in non-Marfan patients, clinical variability may be implied by allelic variants in FBN1 expression or by certain FBN1 polymorphisms [ 38 ]. Alternatively, modifier genes, such as TGF-β and FBN2 , or even polymorphisms located in the FBN1 gene may influence the penetrance or severity of MFS [ 39 ]. Therefore, involved mechanisms affecting the R2627W FBN1 variant expression could be similar, and its penetrance may rely on the presence of other variants in FBN1 or other genes involved in the same pathway as suggested by Van Dijk et al [ 20 ].…”

Section: Discussionmentioning

confidence: 99%

Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review

Reyes-Hernández

Palacios‐Reyes

Chávez-Ocaña

et al. 2016

BMC Musculoskelet Disord

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BackgroundFBN1 (15q21.1) encodes fibrillin-1, a large glycoprotein which is a major component of microfibrils that are widely distributed in structural elements of elastic and non-elastic tissues. FBN1 variants are responsible for the related connective tissue disorders, grouped under the generic term of type-1 fibrillinopathies, which include Marfan syndrome (MFS), MASS syndrome (Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings, Acromicric dysplasia, Familial ectopia lentis, Geleophysic dysplasia 2, Stiff skin syndrome, and dominant Weill-Marchesani syndrome.Case presentationTwo siblings presented with isolated skeletal manifestations of MFS, including severe pectus excavatum, elongated face, scoliosis in one case, and absence of other clinical features according to Ghent criteria diagnosis, were screened for detection of variants in whole FBN1 gene (65 exons). Both individuals were heterozygous for the R2726W variant. This variant has been previously reported in association with some skeletal features of Marfan syndrome in the absence of both tall stature and non-skeletal features. These features are consistent with the presentation of the siblings reported here.ConclusionThe presented cases confirm that the R2726W FBN1 variant is associated with skeletal features of MFS in the absence of cardiac or ocular findings. These findings confirm that FBN1 variants are associated with a broad phenotypic spectrum and the value of sequencing in atypical cases.

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“…one or a few [97][98][99], is FBN2 (5q23-q31) [33]. The gene used for Marfan Syndrome, which can include symptoms such as tall, thin, long fingers, scoliosis, and mitral valve prolapse [8,99,100], is FBN1 (15q21.1) [7]. individuals with PE).…”

Section: Pedigree Construction Pe-inheritance and Sex Ratiomentioning

confidence: 99%

Advancing our understanding of the inheritance and transmission of pectus excavatum

et al. 2015

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Pectus excavatum is the most common congenital chest wall abnormality expressed in children, yet its inheritance is poorly understood. Here we present the first comprehensive assessment of the inheritance of this disorder. After evaluating 48 pedigrees and 56 clinical traits of probands and family members, we find strong evidence of autosomal recessive, genetic control for this disorder. Additionally there is likely more than one pectus disease-associated allele, as well as a relatively large number of disease allele carriers in the human population. Some clinical traits appear important and may serve as reliable indicators for predicting the likelihood of pectus excavatum in children before severe symptoms present. Quantifying sex-ratio bias in probands demonstrates a highly significant male bias associated with pectus excavatum. When combined with pedigree data, sex-bias is indicative of sex-linked, sex-limited, and/or epigenetic control such as X-inactivation, reiterating a point made with pedigrees alone, which is that more than one mutation is likely responsible for this disorder.

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Fibrillin I gene polymorphism is associated with tall stature of normal individuals

Cited by 11 publications

References 5 publications

Postmortem diagnosis of Marfan syndrome in a case of sudden death due to aortic rupture: Detection of a novel FBN1 frameshift mutation

Postmortem diagnosis of Marfan syndrome in a case of sudden death due to aortic rupture: Detection of a novel FBN1 frameshift mutation

Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review

Advancing our understanding of the inheritance and transmission of pectus excavatum

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