A novel X-linked dominant condition: X-linked congenital isolated ptosis

Authors
McMullan, TFW Collins, AR Tyers, AG Robinson, DO
Citation
Tfw. Mcmullan et al., A novel X-linked dominant condition: X-linked congenital isolated ptosis, AM J HU GEN, 66(4), 2000, pp. 1455-1460
Citations number
9
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF HUMAN GENETICS
ISSN journal
00029297 → ACNP
Volume
66
Issue
4
Year of publication
2000
Pages
1455 - 1460
Database
ISI
SICI code
0002-9297(200004)66:4<1455:ANXDCX>2.0.ZU;2-E
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 sc ore of 2.88 at DXS1047 and DXS984. Male and female family members are equal ly affected, providing an example of an X-linked, truly dominant condition.