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Brief Communication

Nature Genetics 39, 957–959 (1 August 2007) | doi:10.1038/ng2063

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

Sibel Kantarci , Lihadh Al-Gazali , R Sean Hill , Dian Donnai , Graeme C M Black , Eric Bieth , Nicolas Chassaing , Didier Lacombe , Koen Devriendt , Ahmad Teebi , Maria Loscertales , Caroline Robson , Tianming Liu , David T MacLaughlin , Kristin M Noonan , Meaghan K Russell , Christopher A Walsh , Patricia K Donahoe & Barbara R Pober

Donnai-Barrow syndrome is associated with agenesis of the corpus callosum, congenital diaphragmatic hernia, facial dysmorphology, ocular anomalies, sensorineural hearing loss and developmental delay. By studying multiplex families, we mapped this disorder to chromosome 2q23.3–31.1 and identified LRP2 mutations in six families with Donnai-Barrow syndrome and one family with facio-oculo-acoustico-renal syndrome.