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 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.

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

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.

Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene

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.

Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype

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.

Truncated C-terminus of fibrillin-1 induces Marfanoid-progeroid-lipodystrophy (MPL) syndrome in rabbit

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.

A synonymous variant contributes to a rare Wiedemann-Rautenstrauch syndrome complicated with mild anemia via affecting pre-mRNA splicing

Network analysis showed that POLR3A and FANCA could be STRINGed, indicating both proteins might collaborate for some unknown functions, which would broaden the knowledge for clinicians and genetic counselors and remind them to interpret those synonymous or predicted “benign” variants more carefully.

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations

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.

A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2.

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.
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