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  Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene

Türkmen, S., Hoffmann, K.., Demirhan, O., Aruoba, D., Humphrey, N., & Mundlos, S. (2008). Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene. European Journal of Human Genetics, 16, 1070-1074. doi:10.1038/ejhg.2008.73.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8026-8 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8027-6
Genre: Journal Article
Alternative Title : Eur J Hum Genet

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ejhg200873a.pdf (Any fulltext), 190KB
 
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 Creators:
Türkmen, S.1, Author              
Hoffmann, K ., Author
Demirhan, Osman, Author
Aruoba, Defne, Author
Humphrey, N., Author
Mundlos, Stefan2, Author              
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

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Free keywords: VLDLR, hypoplasia of cerebellum, quadrupedal locomotion, malformation brain, compensation, mutation
 Abstract: The cerebellum is the primary motor coordination centre of the central nervous system. Lesions or congenital defects of the cerebellum cause incoordination of the muscles resulting in irregular gait and falling. Recently, we reported a large family with cerebellum hypoplasia and quadrupedal locomotion as a recessive trait, which we mapped to chromosome 17p13. We identified one additional family with the same condition and mapped the underlying gene to a 14-cM interval on chromosome 9ptel using a genome-wide linkage approach. Sequencing of candidate genes identified a homozygous frameshift mutation in the very low-density lipoprotein receptor (VLDLR) gene in all affected individuals. The association of cerebellar hypoplasia with mutations in VLDLR has been reported previously in the Hutterite population and in a family from Iran. However, quadrupedal locomotion was never observed indicating that environmental factors play a major role in the pathogenesis of this form of locomotion.

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Language(s): eng - English
 Dates: 2008-03-26
 Publication Status: Published in print
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Title: European Journal of Human Genetics
  Alternative Title : Eur J Hum Genet
Source Genre: Journal
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Pages: - Volume / Issue: 16 Sequence Number: - Start / End Page: 1070 - 1074 Identifier: ISSN: 1018-4813