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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

TitleThe locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9-cM region on chromosome 11q23
Authors
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
Citation
Clinical Genetics, 2004, v. 65 n. 2, p. 137-142 How to Cite?
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.
Persistent Identifierhttp://hdl.handle.net/10722/44387
ISSN
2014 Impact Factor: 3.931
2014 SCImago Journal Rankings: 1.444
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLo, Ben_HK
dc.contributor.authorFaiyazUlHaque, Men_HK
dc.contributor.authorBanwell, Ben_HK
dc.contributor.authorBlaser, Sen_HK
dc.contributor.authorPaterson, ADen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorTeebi, ASen_HK
dc.date.accessioned2007-09-12T03:52:34Z-
dc.date.available2007-09-12T03:52:34Z-
dc.date.issued2004en_HK
dc.identifier.citationClinical Genetics, 2004, v. 65 n. 2, p. 137-142en_HK
dc.identifier.issn0009-9163en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44387-
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.en_HK
dc.languageengen_HK
dc.publisherBlackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGEen_HK
dc.relation.ispartofClinical Geneticsen_HK
dc.rightsFor full bibliographic citation, please refer to the version available at www.blackwell-synergy.comen_HK
dc.subjectAutosomal recessiveen_HK
dc.subjectBrainstem hypoplasiaen_HK
dc.subjectHorizontal gaze palsyen_HK
dc.subjectLinkage analysisen_HK
dc.subjectScoliosisen_HK
dc.subject.meshChromosome mappien_HK
dc.subject.meshChromosomes, human, pair 11en_HK
dc.subject.meshBrain stem - pathologyen_HK
dc.subject.meshMagnetic resonance imagingen_HK
dc.subject.meshOcular motility disorders - geneticsen_HK
dc.titleThe locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9-cM region on chromosome 11q23en_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0009-9163&volume=65&issue=2&spage=137&epage=142&date=2004&atitle=The+locus+responsible+for+horizontal+gaze+palsy/progressive+scoliosis+and+brainstem+hypoplasia+is+refined+to+a+9-cM+region+on+chromosome+11q23en_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.natureabstracten_HK
dc.identifier.doi10.1111/j.0009-9163.2004.00201.xen_HK
dc.identifier.pmid14984473en_HK
dc.identifier.scopuseid_2-s2.0-1242341213en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-1242341213&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume65en_HK
dc.identifier.issue2en_HK
dc.identifier.spage137en_HK
dc.identifier.epage142en_HK
dc.identifier.isiWOS:000188539600011-
dc.publisher.placeDenmarken_HK
dc.identifier.scopusauthoridLo, B=7102639051en_HK
dc.identifier.scopusauthoridFaiyazUlHaque, M=6603280179en_HK
dc.identifier.scopusauthoridBanwell, B=6603816806en_HK
dc.identifier.scopusauthoridBlaser, S=22984215900en_HK
dc.identifier.scopusauthoridPaterson, AD=7202360951en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridTeebi, AS=7004661664en_HK

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