Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25
2002; Lippincott Williams & Wilkins; Volume: 59; Issue: 3 Linguagem: Inglês
10.1212/wnl.59.3.432
ISSN1526-632X
AutoresJoanna C. Jen, Carola Coulin, Thomas M. Bosley, Mustafa A. Salih, Chiara Sabatti, Stanley F. Nelson, Robert W. Baloh,
Tópico(s)Ubiquitin and proteasome pathways
ResumoHorizontal gaze palsy with progressive scoliosis (HGPS) is a rare, autosomal recessive disorder characterized by a congenital absence of conjugate horizontal eye movement, with progressive scoliosis developing in childhood or adolescence. The authors identified two unrelated consanguineous families with HGPS. Genomewide homozygosity mapping and linkage analysis mapped the disease locus to a 30-cM interval on chromosome 11q23-25 (combined maximum multipoint lod score Z = 5.46).
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