title: A novel X-linked dominant condition: X-linked congenital isolated ptosis.
abstract: We present a large family with a previously undescribed condition: X-linked dominant congenital bilateral isolated ptosis. Linkage analysis defined a critical region between Xq24 and Xq27.1, with a maximum single-point LOD score of 2.88 at DXS1047 and DXS984. Male and female family members are equally affected, providing an example of an X-linked, truly dominant condition.
authors.affiliation: Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, United Kingdom. TFWMCM@aol.com
authors.forename: T F
authors.initials: TF
authors.lastname: McMullan
authors.forename: A R
authors.initials: AR
authors.lastname: Collins
authors.forename: A G
authors.initials: AG
authors.lastname: Tyers
authors.forename: D O
authors.initials: DO
authors.lastname: Robinson
mesh_terms: D000483:Alleles; D001763:Blepharoptosis / Q000151:congenital* / Q000235:genetics*; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D019175:DNA Methylation; D004303:Dosage Compensation, Genetic; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics; D014960:X Chromosome / Q000235:genetics*