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
2011 Impact Factor: 3.128
2011 SCImago Journal Rankings: 0.397
DOIhttp://dx.doi.org/10.1111/j.0009-9163.2004.00201.x
ReferencesReferences in Scopus
DC Field
Value
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
2011 Impact Factor: 3.128
2011 SCImago Journal Rankings: 0.397
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
Author Affiliations
  1. The University of Hong Kong
  2. University of Toronto
  3. Hospital for Sick Children, Toronto