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  Genetic heterogeneity of cutis laxa: A heterozygous tandem duplication within the fibulin-5 (FBLN5) gene

Markova, D., Zou, Y. Q., Ringpfeil, F., Sasaki, T., Kostka, G., Timpl, R., et al. (2003). Genetic heterogeneity of cutis laxa: A heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. American Journal of Human Genetics, 72(4), 998-1004.

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Genre: Journal Article
Alternative Title : Am. J. Hum. Genet.

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 Creators:
Markova, D., Author
Zou, Y. Q., Author
Ringpfeil, F., Author
Sasaki, T.1, Author              
Kostka, G.2, Author              
Timpl, R.1, Author              
Uitto, J., Author
Chu, M. L., Author
Affiliations:
1Former Research Groups, Max Planck Institute of Biochemistry, Max Planck Society, ou_1565145              
2Fässler, Reinhard / Molecular Medicine, Max Planck Institute of Biochemistry, Max Planck Society, ou_1565147              

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 Abstract: Inherited cutis laxa is a connective tissue disorder characterized by loose skin and variable internal organ involvement, resulting from paucity of elastic fibers. Elsewhere, frameshift mutations in the elastin gene have been reported in three families with autosomal dominant inheritance, and a family with autosomal recessive cutis laxa was recently reported to have a homozygous missense mutation in the fibulin- 5 gene. In the present study, we analyzed the gene expression of elastin and fibulins 1-5 in fibroblasts from five patients with cutis laxa. One patient was found to express both normal (2.2 kb) and mutant (2.7 kb) fibulin-5 mRNA transcripts. The larger transcript contains an internal duplication of 483 nucleotides, which resulted in the synthesis and secretion of a mutant fibulin-5 protein with four additional tandem calcium- binding epidermal growth factor-like motifs. The mutation arose from a 22-kb tandem gene duplication, encompassing the sequence from intron 4 to exon 9. No fibulin-5 or elastin mutations were detected in the other patients. The results demonstrate that a heterozygous mutation in fibulin-5 can cause cutis laxa and also suggest that fibulin-5 and elastin gene mutations are not the exclusive cause of the disease.

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Language(s): eng - English
 Dates: 2003-04
 Publication Status: Published in print
 Pages: -
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 Table of Contents: -
 Rev. Type: Peer
 Identifiers: eDoc: 41702
ISI: 000181972600019
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Title: American Journal of Human Genetics
  Alternative Title : Am. J. Hum. Genet.
Source Genre: Journal
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Affiliations:
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Pages: - Volume / Issue: 72 (4) Sequence Number: - Start / End Page: 998 - 1004 Identifier: ISSN: 0002-9297