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Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
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Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
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Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
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Journal Article
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
2007
Overview
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.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
Abnormalities, Multiple - genetics
/ Animal Genetics and Genomics
/ Biological and medical sciences
/ Biomedical and Life Sciences
/ Brain
/ Cell structures and functions
/ Craniofacial Abnormalities - genetics
/ Eye Diseases, Hereditary - genetics
/ Family
/ Fundamental and applied biological sciences. Psychology
/ Genetics
/ Genetics of eukaryotes. Biological and molecular evolution
/ Hearing Loss, Sensorineural - genetics
/ Hernia, Diaphragmatic - genetics
/ Humans
/ Low Density Lipoprotein Receptor-Related Protein-2 - genetics
/ Molecular and cellular biology
/ Mutation
/ Syndrome
