@article{33bf262c19d64b6087f91d82609c1781,
title = "Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes",
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.",
author = "Sibel Kantarci and Lihadh Al-Gazali and Hill, {R. Sean} and Dian Donnai and Black, {Graeme C.M.} and Eric Bieth and Nicolas Chassaing and Didier Lacombe and Koen Devriendt and Ahmad Teebi and Maria Loscertales and Caroline Robson and Tianming Liu and MacLaughlin, {David T.} and Noonan, {Kristin M.} and Russell, {Meaghan K.} and Walsh, {Christopher A.} and Donahoe, {Patricia K.} and Pober, {Barbara R.}",
note = "Funding Information: We thank the many families who supported this project. We thank D. Altshuler, D. Brown, M. Daly, J. Gusella, J. Ingelfinger, M. MacDonald and T.E. Willnow for discussions; L. Blakemore, J. Graham, Y. Lacassie, E. McPherson, A. Paterson, D. Powell, J. Tchinda Ndjuiken, D. Gleason, L. Mitova, K. O{\textquoteright}Brien, and T. Manganaro for advice and assistance; L. Holmes for reporting the first family with FOAR and for encouraging this study from its inception; L. Javois and T. Hewitt for conceiving the US National Institute of Child Health and Human Development Birth Defects Initiative and encouraging and supporting this work. G.C.M.B. is a Wellcome Trust Senior Clinical Research Fellow. C.A.W. and R.S.H. are supported by US National Institute for Neurological Disorders and Stroke grant R37 NS35129. C.A.W. is an Investigator of the Howard Hughes Medical Institute. P.K.D., S.K., M.L., D.T.M., K.M.N., B.R.P. and M.K.R. are supported by R01 HD55150-01. K.M.N. is also supported by the 2006 American College of Surgeons{\textquoteright} Resident Research Award.",
year = "2007",
month = aug,
doi = "10.1038/ng2063",
language = "English",
volume = "39",
pages = "957--959",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "8",
}