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Article

Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans.

Proceedings of the National Academy of Sciences of the United States of America - 18 Mar 2008

Ozcelik Tayfun, Akarsu Nurten, Uz Elif, Caglayan Safak, Gulsuner Suleyman, Onat Onur Emre, Tan Meliha, Tan Uner

Abstract excerpt

Quadrupedal gait in humans, also known as Unertan syndrome, is a rare phenotype associated with dysarthric speech, mental retardation, and varying degrees of cerebrocerebellar hypoplasia. Four large consanguineous kindreds from Turkey manifest this phenotype. In two families (A and D), shared homozygosity among affected relatives mapped the trait to a 1.3-Mb region of chromosome 9p24. This genomic region includes...

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Identifiers

PMID: 18326629
DOI: 10.1073/pnas.0710010105
PMCID: PMC2393756

Genes

VLDLR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans.PMID 18326629Read ↗

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A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia.Semantic proximity Read ↗

Mutations in <i>VLDLR</i> as a Cause for Autosomal Recessive Cerebellar Ataxia With Mental Retardation (Dysequilibrium Syndrome)Semantic proximity Read ↗

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