2014
DOI: 10.1002/ajmg.a.36449
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De novo heterozygous FBN1 mutations in the extreme C‐terminal region cause progeroid fibrillinopathy

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Cited by 23 publications
(21 citation statements)
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“…Two subtypes have been reported to be due to de novo heterozygous mutations in FBN1 and CAV1. 21,22 Abbreviation: CGL, congenital generalized lipodystrophy.…”
Section: Managementmentioning
confidence: 99%
See 1 more Smart Citation
“…Two subtypes have been reported to be due to de novo heterozygous mutations in FBN1 and CAV1. 21,22 Abbreviation: CGL, congenital generalized lipodystrophy.…”
Section: Managementmentioning
confidence: 99%
“…[12][13][14][15] By contrast, the other types of lipodystrophy-mandibuloacral dysplasia, autoinflammatory lipodystrophy, progeroid syndromes associated lipodystrophy, SHORT syndrome associated lipodystrophy and Keppen-Lubinsky syndrome associ ated lipodystrophy-are extremely rare and in total each subtype has been reported in no more than 30 patients (Box 1). 10,11,[16][17][18][19][20][21][22][23][24][25][26][27][28][29][30] However, FPLD has autosomal dominant inheritance and some patients with subtle loss of fat from the extremities might not receive an accurate diagnosis; therefore, the prevalence of this lipodystrophy might be higher than is reported. CGL has the most extreme pheno type with loss of nearly all the body fat at birth ( Figure 1) and early development of metabolic complications in childhood.…”
Section: Introductionmentioning
confidence: 98%
“…In patients with neonatal progeroid syndrome, generalized diminution of subcutaneous fat has been reported, but it is often accompanied by concomitant reduction in skeletal muscle and lean body mass unlike other lipodystrophy syndromes [32]. Some patients with neonatal progeroid syndrome have been reported to have de novo heterozygous null mutations in penultimate exon of fibrillin 1 ( FBN1) gene [33][34][35][36].…”
Section: Lipodystrophy In Association With Other Syndromesmentioning
confidence: 99%
“…6,7 Six recent reports describe seven patients with a newly recognized syndrome, the clinical features of which overlap with those of congenital MFS, progeroid syndromes, and lipodystrophy. [8][9][10][11][12][13] All seven individuals harbor a disease-causing mutation in exon 64, the penultimate exon of the FBN1 gene (Table 1).…”
mentioning
confidence: 99%
“…[9][10][11][12][13] In all seven patients, the mutation is located in exon 64 of the FBN1 gene, as summarized in Table 1. All were de novo; two patients carried the same splice site mutation.…”
mentioning
confidence: 99%