1997
DOI: 10.1002/(sici)1098-1004(1997)10:4<326::aid-humu10>3.3.co;2-r
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P1148A in fibrillin‐1 is not a mutation leading to Shprintzen‐Goldberg syndrome

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Cited by 3 publications
(10 citation statements)
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“…In 1996, the FBN1 mutation C1223Y was identified in a 7‐year‐old girl with typical ocular, skeletal, and cardiovascular features of MFS, and additional findings consistent with the diagnosis of SGS, including hypotonia, craniosynostosis, anomalous ears, and mental retardation [Sood et al, 1996]. The authors identified a second sequence change in FBN1 , P1148A, in another person with SGS, but P1148A was subsequently shown to be a polymorphism [Wang et al, 1997; Watanabe et al, 1997].…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…In 1996, the FBN1 mutation C1223Y was identified in a 7‐year‐old girl with typical ocular, skeletal, and cardiovascular features of MFS, and additional findings consistent with the diagnosis of SGS, including hypotonia, craniosynostosis, anomalous ears, and mental retardation [Sood et al, 1996]. The authors identified a second sequence change in FBN1 , P1148A, in another person with SGS, but P1148A was subsequently shown to be a polymorphism [Wang et al, 1997; Watanabe et al, 1997].…”
Section: Discussionmentioning
confidence: 99%
“…In 1996, two alterations in the fibrillin‐1 gene ( FBN1 ) were identified in individuals with SGS [Sood et al, 1996]. One of the alterations (P1148A) was later shown to be a polymorphic variant rather than a disease‐causing mutation [Wang et al, 1997; Watanabe et al, 1997]. The other change was a de novo mutation found in a person with sporadic SGS and the typical skeletal, ocular, and cardiovascular features of MFS [Sood et al, 1996].…”
Section: Introductionmentioning
confidence: 99%
“…Fibrillin-1 gene is preferentially found in elastic tissue (eg, tunica media of the aorta), and defects in its expression are also implicated in other fibrinopathies. [13][14][15][16] The fibrillin-1 gene mutations in Marfan syndrome are normally clustered in the region of exons 24 to 28. [13][14][15][16] Because of the similarity of histopathologic changes of the aortic media of patients with TOF, bicuspid aortic valvular disease, and other fibrinopathies, and the implication of fibrillin-1 gene in Marfan syndrome, we hypothesized that fibrillin-1 gene polymorphisms and mutations may have a biologically plausible role in the development of dilated aortas in patients with TOF.…”
mentioning
confidence: 99%
“…[13][14][15][16] The fibrillin-1 gene mutations in Marfan syndrome are normally clustered in the region of exons 24 to 28. [13][14][15][16] Because of the similarity of histopathologic changes of the aortic media of patients with TOF, bicuspid aortic valvular disease, and other fibrinopathies, and the implication of fibrillin-1 gene in Marfan syndrome, we hypothesized that fibrillin-1 gene polymorphisms and mutations may have a biologically plausible role in the development of dilated aortas in patients with TOF. 4,[6][7][8][9][10][11][12][13][14][15][16] We focused our search for fibrillin-1 gene polymorphisms and mutations on exons 24 to 28 on the basis that most of the fibrillin-1 gene mutations in Marfan syndrome are normally clustered to these 5 exons.…”
mentioning
confidence: 99%
“…SGS is a rare constitutional bone disease, characterized by the combination of marfanoid habitus with craniosynostosis [23][24][25]. SGS may be an allelic disorder of Marfan syndrome, because mutations of the fibrillin-1 gene (assigned to 15g21.1) have been recently reported in some patients with SGS [26], although it remains inconclusive whether the mutations are disease-causing [27]. To date, no association with 17OHD has been reported in either SGS or Marfan syndrome, and the concurrence of 17OHD with the SGS phenotype in our patient may be for-tuitous.…”
Section: Discussionmentioning
confidence: 99%