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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Alleles
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Blepharoptosis / congenital*
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Blepharoptosis / genetics*
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Chromosome Mapping
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Chromosomes, Human, Pair 1 / genetics
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DNA Methylation
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Dosage Compensation, Genetic
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Female
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Genes, Dominant / genetics*
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Genetic Linkage / genetics*
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Haplotypes / genetics
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Humans
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Lod Score
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Male
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Pedigree
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Polymorphism, Genetic / genetics
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X Chromosome / genetics*