Marfan syndrome with neonatal progeroid syndrome‐like lipodystrophy associated with a novel frameshift mutation at the 3′ terminus of the FBN1‐gene

@article{GraulNeumann2010MarfanSW,
  title={Marfan syndrome with neonatal progeroid syndrome‐like lipodystrophy associated with a novel frameshift mutation at the 3′ terminus of the FBN1‐gene},
  author={Luitgard Margarete Graul-Neumann and Tina Kienitz and Peter N. Robinson and Sevjidmaa Baasanjav and Benjamin Karow and G. Gillessen‐kaesbach and Raimund Fahsold and Hartmut Schmidt and Katrin Hoffmann and Eberhard Passarge},
  journal={American Journal of Medical Genetics Part A},
  year={2010},
  volume={152A}
}
We report on a 25-year-old woman with pronounced generalized lipodystrophy and a progeroid aspect since birth, who also had Marfan syndrome (MFS; fulfilling the Ghent criteria) with mild skeletal features, dilated aortic bulb, dural ectasia, bilateral subluxation of the lens, and severe myopia in addition to the severe generalized lipodystrophy. [...] Key Result Mutation analysis in the gene encoding fibrillin 1 (FBN1) revealed a novel de novo heterozygous deletion, c.8155_8156del2 in exon 64.Expand
Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.
TLDR
It is confirmed the correlation between marfanoid phenotype with congenital lipodystrophy and neonatal progeroid features and frameshift mutations at the 3' end of FBN1 andFBN1 mutations associated with a similar phenotype have only been reported in four patients. Expand
Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3′ end of the FBN1 gene
TLDR
A 20‐year‐old man who presented in infancy with severe generalized lipodystrophy with a progeroid appearance and some Marfanoid features is reported on, showing him to have a novel heterozygous, de novo, c.8156_8175del, p.Lys2719ThrfsX12, frameshift mutation in exon 64 of his FBN1 gene. Expand
Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene
TLDR
It is suggested a specific clinical entity characterized by progeroid facial features, lipodystrophy, and at least some clinical signs of Marfan syndrome is associated with a subset of mutations located at the 3′ end of FBN1. Expand
Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype
TLDR
It is proposed that this marfanoid entity comprised of congenital lipodystrophy, a neonatal progeroid appearance, and a peculiar growth profile and caused by rare mutations in the penultimate exon of FBN1, be newly referred to as marfanoids–progeroid syndrome. Expand
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TLDR
Progress in the identification of lipodystrophy genes will help in better understanding the role of the pathways involved in the complex physiology of fat, as well as more common forms of adipose tissue redistribution as observed in the metabolic syndrome and type 2 diabetes. Expand
Truncated C-terminus of fibrillin-1 induces Marfanoid-progeroid-lipodystrophy (MPL) syndrome in rabbit
TLDR
A novel genetically engineered rabbit model ofMPL syndrome, generated by CRISPR/Cas9-mediated mutation of FBN1, mimics the histopathological changes and functional defects of MPL syndrome seen in the clinic. Expand
Chapter 23 – Lipodystrophies
TLDR
Among extremely rare syndromes, autosomal recessive, mandibuloacral dysplasia is due to LMNA and ZMPSTE24 mutations and an autoinflammatory lipodystrophy syndrome due to PSMB8 mutations, and the precise mode of inheritance and molecular genetic bases of many extremely rare forms of genetic lipodystrophies remain to be elucidated. Expand
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TLDR
It is suggested that POLR3A mutations are causal for a portion of under-diagnosed early-onset segmental progeroid syndromes, and the clinical spectrum associated with PYCR1 mutations is expanded by showing that they can somewhat resemble HGPS in the first year of life. Expand
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TLDR
A Palestinian family with three affected individuals exhibiting progeroid syndrome characterized by intrauterine growth retardation, a progeroids appearance, failure to thrive, short stature, and hypotonia is reported, anticipated to open the way for the identification of the molecular causes underlying this syndrome. Expand
Marfanoid–progeroid–lipodystrophy syndrome: a newly recognized fibrillinopathy
TLDR
It is suggested that this previously unknown genotype/phenotype relationship constitutes a new fibrillinopathy for which the name marfanoid–progeroid–lipodystrophy syndrome would be appropriate. Expand
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