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

Research output: Contribution to journalArticlepeer-review

230 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)957-959
Number of pages3
JournalNature Genetics
Volume39
Issue number8
DOIs
Publication statusPublished - Aug 2007

ASJC Scopus subject areas

  • Genetics

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