Title: Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
Authors: Kantarci, Sibel ×
Al-Gazali, Lihadh
Hill, R Sean
Donnai, Dian
Black, Graeme C M
Bieth, Eric
Chassaing, Nicolas
Lacombe, Didier
Devriendt, Koenraad
Teebi, Ahmad
Loscertales, Maria
Robson, Caroline
Liu, Tianming
MacLaughlin, David T
Noonan, Kristin M
Russell, Meaghan K
Walsh, Christopher A
Donahoe, Patricia K
Pober, Barbara R #
Issue Date: Aug-2007
Publisher: Nature America, Inc.
Series Title: Nature Genetics vol:39 issue:8 pages:957-959
Abstract: 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 circulating compounds. This work implicates a pathway with potential pharmacological therapeutic targets.
ISSN: 1061-4036
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics
Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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