The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function

  title={The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function},
  author={Roman Makarov and Bernhard Steiner and Zoran Gucev and Velibor Tasic and Peter F Wieacker and Ilse Wieland},
  journal={BMC Medical Genetics},
  pages={98 - 98}
BackgroundMutations of EFNB1 cause the X-linked malformation syndrome craniofrontonasal syndrome (CFNS). CFNS is characterized by an unusual phenotypic pattern of inheritance, because it affects heterozygous females more severely than hemizygous males. This sex-dependent inheritance has been explained by random X-inactivation in heterozygous females and the consequences of cellular interference of wild type and mutant EFNB1-expressing cell populations. EFNB1 encodes the transmembrane protein… 

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It is concluded that mutations in EFNB1 cause CFNS, a X-linked craniofacial disorder with an unusual manifestation pattern, in which affected females show multiple skeletal malformations whereas the genetic defect causes no or only mild abnormalities in male carriers.

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Expression of EFNB1 mRNA was studied by RT-PCR in fibroblast cultures established from CFNS female patients to suggest differential degradation of mutant EF NB1 transcripts by the nonsense-mediated mRNA decay pathway, further supporting the concept of cellular interference in CFNS.

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Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.

  • S. TwiggR. Kan A. Wilkie
  • Biology, Medicine
    Proceedings of the National Academy of Sciences of the United States of America
  • 2004
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