Ontology highlight
ABSTRACT:
SUBMITTER: Kantarci S
PROVIDER: S-EPMC2891728 | biostudies-literature | 2007 Aug
REPOSITORIES: biostudies-literature
Kantarci Sibel S Al-Gazali Lihadh L Hill R Sean RS Donnai Dian D Black Graeme C M GC Bieth Eric E Chassaing Nicolas N Lacombe Didier D Devriendt Koen K Teebi Ahmad A Loscertales Maria M Robson Caroline C Liu Tianming T MacLaughlin David T DT Noonan Kristin M KM Russell Meaghan K MK Walsh Christopher A CA Donahoe Patricia K PK Pober Barbara R BR
Nature genetics 20070715 8
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. LRP2 encodes megalin, a multiligand uptake receptor that regulates levels of diverse c ...[more]