Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25.
Horizontal 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).
Jen
Joanna
J
Department of Neurology, Division of Head & Neck Surgery, UCLA School of Medicine, 710 Westwood Plaza, Box 951769, Los Angeles, CA 90095-1769, USA. jjen@ucla.edu
Coulin
C J
CJ
Bosley
T M
TM
Salih
M A M
MA
Sabatti
C
C
Nelson
S F
SF
Baloh
R W
RW
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping / Q000379:methods* / Q000706:statistics & numerical data; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009759:Nystagmus, Pathologic / Q000235:genetics; D015835:Ocular Motility Disorders / Q000235:genetics*; D015840:Oculomotor Nerve Diseases / Q000235:genetics; D010375:Pedigree; D012600:Scoliosis / Q000235:genetics*