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  Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.

Graul-Neumann, L. M., Kienitz, T., Robinson, P. N., Baasanjav, S., Karow, B., Gillessen-Kaesbach, G., et al. (2010). Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. American Journal of Medical Genetics Part A, 152A(11), 2749-2755. doi:10.1002/ajmg.a.33690.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7A01-D Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7A02-B
Genre: Journal Article
Alternative Title : Am J Med Genet A

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 Creators:
Graul-Neumann, L. M., Author
Kienitz, T., Author
Robinson, P. N.1, Author              
Baasanjav, S., Author
Karow, B., Author
Gillessen-Kaesbach, G., Author
Fahsold, R., Author
Schmidt, H., Author
Hoffmann, K.1, Author              
Passarge, E., Author
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

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Free keywords: Marfan syndrome; neonatal progeroid syndrome; lipodystrophy; FBN1 mutation
 Abstract: 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. She lacked insulin resistance, hypertriglyceridemia, hepatic steatosis, and diabetes. Mutation analysis in the gene encoding fibrillin 1 (FBN1) revealed a novel de novo heterozygous deletion, c.8155_8156del2 in exon 64. The severe generalized lipodystrophy in this patient with progeroid features has not previously been described in other patients with MFS and FBN1 mutations. We did not find a mutation in genes known to be associated with congenital lipodystrophy (APGAT2, BSCL2, CAV1, PTRF-CAVIN, PPARG, LMNB2) or with Hutchinson-Gilford progeria (ZMPSTE24, LMNA/C). Other progeria syndromes were considered unlikely because premature greying, hypogonadism, and scleroderma-like skin disease were not present. Our patient shows striking similarity to two patients who have been published in this journal by O'Neill et al. [O'Neill et al. (2007); Am J Med Genet Part A 143A:1421-1430] with the diagnosis of neonatal progeroid syndrome (NPS). This condition also known as Wiedemann-Rautenstrauch syndrome is a rare disorder characterized by accelerated aging and lipodystrophy from birth, poor postnatal weight gain, and characteristic facial features. The course is usually progressive with early lethality. However this entity seems heterogeneous. We suggest that our patient and the two similar cases described before represent a new entity, a subgroup of MFS with overlapping features to NPS syndrome.

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Language(s): eng - English
 Dates: 2010-11-01
 Publication Status: Published in print
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Title: American Journal of Medical Genetics Part A
  Alternative Title : Am J Med Genet A
Source Genre: Journal
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Pages: - Volume / Issue: 152A (11) Sequence Number: - Start / End Page: 2749 - 2755 Identifier: ISSN: 1552-4825 10.1002/ajmg.a.33690