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http://purl.uniprot.org/citations/27123486http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/27123486http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/27123486http://www.w3.org/2000/01/rdf-schema#comment"

Objective

To identify the underlying molecular basis of a familial developmental disorder characterized by chorea, marked speech delay, and learning difficulties in 4 sisters from a consanguineous family.

Methods

Whole-exome analysis of DNA of the 2 older patients followed by Sanger sequencing of the mutated exon in all family members.

Results

A homozygous deleterious mutation, p.C291X, was identified in the GPR88 gene in both exome analyses. The mutation segregated with the disease in the family and was absent from a large cohort of controls.

Conclusions

Homozygous deleterious mutation in GPR88 in humans is associated with marked speech delay, learning disabilities, and chorea, which manifest at 8-9 years of age. The finding is consistent with the reported abundant expression of GPR88 in the striatum and the hyperkinetic activity and learning impairment observed in GPR88 knockout mice. Although further functional characterization is needed, the finding underscores the importance of GPR88 in movement control and learning."xsd:string
http://purl.uniprot.org/citations/27123486http://purl.org/dc/terms/identifier"doi:10.1212/nxg.0000000000000064"xsd:string
http://purl.uniprot.org/citations/27123486http://purl.org/dc/terms/identifier"doi:10.1212/nxg.0000000000000064"xsd:string
http://purl.uniprot.org/citations/27123486http://purl.uniprot.org/core/author"Elpeleg O."xsd:string
http://purl.uniprot.org/citations/27123486http://purl.uniprot.org/core/author"Elpeleg O."xsd:string
http://purl.uniprot.org/citations/27123486http://purl.uniprot.org/core/author"Shaag A."xsd:string
http://purl.uniprot.org/citations/27123486http://purl.uniprot.org/core/author"Shaag A."xsd:string
http://purl.uniprot.org/citations/27123486http://purl.uniprot.org/core/author"Abu-Libdeh B."xsd:string
http://purl.uniprot.org/citations/27123486http://purl.uniprot.org/core/author"Abu-Libdeh B."xsd:string
http://purl.uniprot.org/citations/27123486http://purl.uniprot.org/core/author"Alkufri F."xsd:string
http://purl.uniprot.org/citations/27123486http://purl.uniprot.org/core/author"Alkufri F."xsd:string
http://purl.uniprot.org/citations/27123486http://purl.uniprot.org/core/date"2016"xsd:gYear
http://purl.uniprot.org/citations/27123486http://purl.uniprot.org/core/date"2016"xsd:gYear
http://purl.uniprot.org/citations/27123486http://purl.uniprot.org/core/name"Neurol. Genet."xsd:string
http://purl.uniprot.org/citations/27123486http://purl.uniprot.org/core/name"Neurol. Genet."xsd:string
http://purl.uniprot.org/citations/27123486http://purl.uniprot.org/core/pages"E64"xsd:string
http://purl.uniprot.org/citations/27123486http://purl.uniprot.org/core/pages"E64"xsd:string
http://purl.uniprot.org/citations/27123486http://purl.uniprot.org/core/title"Deleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilities."xsd:string
http://purl.uniprot.org/citations/27123486http://purl.uniprot.org/core/title"Deleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilities."xsd:string
http://purl.uniprot.org/citations/27123486http://purl.uniprot.org/core/volume"2"xsd:string
http://purl.uniprot.org/citations/27123486http://purl.uniprot.org/core/volume"2"xsd:string
http://purl.uniprot.org/citations/27123486http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/27123486
http://purl.uniprot.org/citations/27123486http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/27123486
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