Format

Send to

Choose Destination
Nat Genet. 1992 Oct;2(2):139-43.

Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins.

Author information

1
Abteilung für Pädiatrische Genetik, Universität München, Germany.

Abstract

A candidate gene for Norrie disease, an X-linked disorder characterized by blindness, deafness and mental disturbances, was recently isolated and found to contain microdeletions in numerous patients. No strong homologies were identified. By studying the number and spacing of cysteine residues, we now detect homologies between the Norrie gene product and a C-terminal domain which is common to a group of proteins including mucins. Three newly-characterized missense mutations, replacing evolutionarily conserved cysteines or creating new cysteine codons, emphasize the functional importance of these sites. These findings and the clinical features of this disorder suggest a possible role for the Norrie gene in neuroectodermal cell-cell interaction.

PMID:
1303264
DOI:
10.1038/ng1092-139
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Nature Publishing Group
Loading ...
Support Center