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Article: The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9-cM region on chromosome 11q23
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TitleThe locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9-cM region on chromosome 11q23
 
AuthorsLo, B3
FaiyazUlHaque, M3
Banwell, B3
Blaser, S3
Paterson, AD2 3
Tsui, LC1 3
Teebi, AS3
 
KeywordsAutosomal recessive
Brainstem hypoplasia
Horizontal gaze palsy
Linkage analysis
Scoliosis
 
Issue Date2004
 
PublisherBlackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGE
 
CitationClinical Genetics, 2004, v. 65 n. 2, p. 137-142 [How to Cite?]
DOI: http://dx.doi.org/10.1111/j.0009-9163.2004.00201.x
 
AbstractHorizontal gaze palsy associated with progressive scoliosis (HGPS) is a rare autosomal recessive condition that has been recently mapped to a 30-cM region on chromosome 11q23-25. In this report, we describe a consanguineous family in which three of five sibs are affected with HGPS. In two of the affected sibs, there was significant cognitive delay in addition to congenital horizontal gaze palsy and childhood onset scoliosis. In all three affected sibs, magnetic resonance imaging (MRI) scans revealed brainstem hypoplasia, a finding that has recently been associated with HGPS. Clinical examination of the family showed no significant dysmorphic features, while karyotyping, EMG, nerve conduction, and muscle biopsies were unrevealing. Homozygosity mapping was performed to narrow the disease locus on 11q23-25. A recombination event was observed in one affected sib between markers D11S1345 and D11S4464, which further refined the region to a 9-cM interval. Since the MRI results provide support for the theory that maldevelopment of neurons in the abducens nuclei and caudal longitudinal fascicle is the cause for HGPS, we speculate on the existence of a gene in this 9-cM interval on chromosome 11q23, which is critical for brainstem development.
 
ISSN0009-9163
2013 Impact Factor: 3.652
 
DOIhttp://dx.doi.org/10.1111/j.0009-9163.2004.00201.x
 
ISI Accession Number IDWOS:000188539600011
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorLo, B
 
dc.contributor.authorFaiyazUlHaque, M
 
dc.contributor.authorBanwell, B
 
dc.contributor.authorBlaser, S
 
dc.contributor.authorPaterson, AD
 
dc.contributor.authorTsui, LC
 
dc.contributor.authorTeebi, AS
 
dc.date.accessioned2007-09-12T03:52:34Z
 
dc.date.available2007-09-12T03:52:34Z
 
dc.date.issued2004
 
dc.description.abstractHorizontal gaze palsy associated with progressive scoliosis (HGPS) is a rare autosomal recessive condition that has been recently mapped to a 30-cM region on chromosome 11q23-25. In this report, we describe a consanguineous family in which three of five sibs are affected with HGPS. In two of the affected sibs, there was significant cognitive delay in addition to congenital horizontal gaze palsy and childhood onset scoliosis. In all three affected sibs, magnetic resonance imaging (MRI) scans revealed brainstem hypoplasia, a finding that has recently been associated with HGPS. Clinical examination of the family showed no significant dysmorphic features, while karyotyping, EMG, nerve conduction, and muscle biopsies were unrevealing. Homozygosity mapping was performed to narrow the disease locus on 11q23-25. A recombination event was observed in one affected sib between markers D11S1345 and D11S4464, which further refined the region to a 9-cM interval. Since the MRI results provide support for the theory that maldevelopment of neurons in the abducens nuclei and caudal longitudinal fascicle is the cause for HGPS, we speculate on the existence of a gene in this 9-cM interval on chromosome 11q23, which is critical for brainstem development.
 
dc.description.natureabstract
 
dc.identifier.citationClinical Genetics, 2004, v. 65 n. 2, p. 137-142 [How to Cite?]
DOI: http://dx.doi.org/10.1111/j.0009-9163.2004.00201.x
 
dc.identifier.doihttp://dx.doi.org/10.1111/j.0009-9163.2004.00201.x
 
dc.identifier.epage142
 
dc.identifier.isiWOS:000188539600011
 
dc.identifier.issn0009-9163
2013 Impact Factor: 3.652
 
dc.identifier.issue2
 
dc.identifier.openurl
 
dc.identifier.pmid14984473
 
dc.identifier.scopuseid_2-s2.0-1242341213
 
dc.identifier.spage137
 
dc.identifier.urihttp://hdl.handle.net/10722/44387
 
dc.identifier.volume65
 
dc.languageeng
 
dc.publisherBlackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGE
 
dc.publisher.placeDenmark
 
dc.relation.ispartofClinical Genetics
 
dc.relation.referencesReferences in Scopus
 
dc.rightsFor full bibliographic citation, please refer to the version available at www.blackwell-synergy.com
 
dc.subject.meshChromosome mappi
 
dc.subject.meshChromosomes, human, pair 11
 
dc.subject.meshBrain stem - pathology
 
dc.subject.meshMagnetic resonance imaging
 
dc.subject.meshOcular motility disorders - genetics
 
dc.subjectAutosomal recessive
 
dc.subjectBrainstem hypoplasia
 
dc.subjectHorizontal gaze palsy
 
dc.subjectLinkage analysis
 
dc.subjectScoliosis
 
dc.titleThe locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9-cM region on chromosome 11q23
 
dc.typeArticle
 
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Author Affiliations
  1. The University of Hong Kong
  2. University of Toronto
  3. Hospital for Sick Children University of Toronto