@article{7af64f5762cc4991bfaf5b2da557c520,
title = "Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification",
abstract = "An autosomal recessive syndrome of nonprogressive cerebellar ataxia and mental retardation is associated with inferior cerebellar hypoplasia and mild cerebral gyral simplification in the Hutterite population. An identity-by-descent mapping approach using eight patients from three interrelated Hutterite families localized the gene for this syndrome to chromosome region 9p24. Haplotype analysis identified familial and ancestral recombination events and refined the minimal region to a 2-Mb interval between markers D9S129 and D9S1871. A 199-kb homozygous deletion encompassing the entire very low density lipoprotein receptor (VLDLR) gene was present in all affected individuals. VLDLR is part of the reelin signaling pathway, which guides neuroblast migration in the cerebral cortex and cerebellum. To our knowledge, this syndrome represents the first human lipoprotein receptor malformation syndrome and the second human disease associated with a reelin pathway defect.",
author = "Boycott, {Kym M.} and Shauna Flavelle and Alexandre Bureau and Glass, {Hannah C.} and Fujiwara, {T. Mary} and Elaine Wirrell and Krista Davey and Chudley, {Albert E.} and Scott, {James N.} and McLeod, {D. Ross} and Parboosingh, {Jillian S.}",
note = "Funding Information: We thank all of the Hutterite families for their active participation in this research. We appreciate the efforts and support of physicians Coleen Adams and Karen Barlow and genetic counselors Carol Farr, Jackie Morris, and Caroline Powell during the clinical characterization phase of this research. We thank Drs. Richard Hawkes, Harvey Sarnat, N. Torben Bech-Hansen, A. Micheil Innes, and Kenneth Morgan for critical review of the manuscript. This work was supported by a short-term project grant from the University of Calgary, an Alberta Children{\textquoteright}s Hospital Foundation grant, and the Canadian Genetic Diseases Network (Networks of Centres of Excellence Program). S.F. was supported by a summer studentship from the Alberta Heritage Foundation for Medical Research. Drs. McLeod and Parboosingh contributed equally to this work, as senior investigators. ",
year = "2005",
month = sep,
doi = "10.1086/444400",
language = "English (US)",
volume = "77",
pages = "477--483",
journal = "American journal of human genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "3",
}