Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome.

Alice Kamal Abd El Aleem, M. Karck, A. Haverich, J. Schmidtke, M. Arslan-Kirchner

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Abstract

We report 9 new mutations in German patients presenting with classical Marfan syndrome. All mutations occur in exons with calcium-binding (cb) epidermal growth factor-like (EGF) domains. Five mutations are missense involving exons 12, 27, 30, 44, and 52 with the resultant substitution of cysteine by phenylalanine (C504F), cysteine by tyrosine (C1129Y), tyrosine by cysteine (Y1261C), cysteine by serine (C1833S), and cysteine by tyrosine (C2142Y), respectively. The other four mutations are single base deletions in exons 39, 43, 48, and 58, at nucleotide A4826, C5311, T6018, and A7291, respectively, each resulting in frameshift with premature termination. Four mutations were detected in sporadic cases and are likely to be de novo.

Original languageEnglish
Pages (from-to)181
Number of pages1
JournalHuman Mutation
Volume14
Issue number2
Publication statusPublished - 19 Aug 1999
Externally publishedYes

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Kamal Abd El Aleem, A., Karck, M., Haverich, A., Schmidtke, J., & Arslan-Kirchner, M. (1999). Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome. Human Mutation, 14(2), 181.