Patterned expression in familial Klippel-Feil syndrome.
Klippel-Feil syndrome (KFS) is characterised by congenital fusion of vertebrae within the rostral spine. The first KFS gene (SGM1) locus identified on chromosome 8 segregates with vertebral fusions and associated vocal impairment within the KF2-01 family (Clarke et al., '94, '95). Here, we describe the unique pattern of variable phenotypic expression within the KF2-01 family. The pattern of anomalies revealed a cumulative, rostrocaudal graded sequence of skipped vertebral fusions. This fusion pattern presents striking similarities with the mutant phenotype and gene expression profile of the Drosophila segment polarity gene engrailed.
Clarke
R A
RA
Division of Cancer Services, St George Hospital, Sydney, Australia.
Kearsley
J H
JH
Walsh
D A
DA
D000293:Adolescent; D002574:Cervical Vertebrae / Q000002:abnormalities* / Q000000981:diagnostic imaging; D004423:Ear / Q000002:abnormalities; D005260:Female; D018507:Gene Expression Regulation, Developmental; D006314:Hearing Loss, Conductive; D006801:Humans; D007714:Klippel-Feil Syndrome / Q000000981:diagnostic imaging / Q000235:genetics*; D007817:Laryngeal Cartilages / Q000002:abnormalities; D008297:Male; D010375:Pedigree; D011859:Radiography; D013904:Thoracic Vertebrae / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014827:Vocal Cords / Q000002:abnormalities; D014832:Voice Disorders / Q000145:classification / Q000209:etiology