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Publication : Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs.

First Author  Jadeja S Year  2005
Journal  Nat Genet Volume  37
Issue  5 Pages  520-5
PubMed ID  15838507 Mgi Jnum  J:98344
Mgi Id  MGI:3578043 Doi  10.1038/ng1549
Citation  Jadeja S, et al. (2005) Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. Nat Genet 37(5):520-5
abstractText  Fraser syndrome is a recessive, multisystem disorder presenting with cryptophthalmos, syndactyly and renal defects and associated with loss-of-function mutations of the extracellular matrix protein FRAS1. Fras1 mutant mice have a blebbed phenotype characterized by intrauterine epithelial fragility generating serous and, later, hemorrhagic blisters. The myelencephalic blebs (my) strain has a similar phenotype. We mapped my to Frem2, a gene related to Fras1 and Frem1, and showed that a Frem2 gene-trap mutation was allelic to my. Expression of Frem2 in adult kidneys correlated with cyst formation in my homozygotes, indicating that the gene is required for maintaining the differentiated state of renal epithelia. Two individuals with Fraser syndrome were homozygous with respect to the same missense mutation of FREM2, confirming genetic heterogeneity. This is the only missense mutation reported in any blebbing mutant or individual with Fraser syndrome, suggesting that calcium binding in the CALXbeta-cadherin motif is important for normal functioning of FREM2.
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