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A novel X-linked dominant condition: X-linked congenital isolated ptosis
T F McMullan1, A R Collins, A G Tyers
1Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, United Kingdom. TFWMCM@aol.com
American Journal of Human Genetics
|March 31, 2000
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.