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. 2000 Apr;66(4):1455-60.
doi: 10.1086/302860. Epub 2000 Mar 14.

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

T F McMullan  1 , A R Collins, A G Tyers, D O Robinson
Affiliations

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

T F McMullan et al. Am J Hum Genet. 2000 Apr.

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.

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Figures

Figure 1
Figure 1
A, Female member of the pedigree showing phenotype. B, Male member of the pedigree showing phenotype.
Figure 2
Figure 2
Ptosis pedigree with haplotypes. Plus signs (+) denote samples obtained for analysis; blackened symbols denote affected status.
Figure 3
Figure 3
The wider pedigree
See this image and copyright information in PMC

References

Electronic-Database Information

    1. The Genome Database, http://www.hgmp.mrc.ac.uk/gdb (for markers)
    1. Online Mendelian Inheritance in Man (OMIM): http://www.ncbi.nlm.nih.gov/Omim (for 1p32-1p34.1 [MIM 178300], X-linked Charcot-Marie-Tooth [MIM 302800], hypophosphatemia [MIM 307800], and X-linked dominant chondroplasia punctata [MIM 302960])

References

    1. Cohen MA (1972) Congenital ptosis: a new pedigree and classification. Arch Ophthalmol 87:161–163 - PubMed
    1. Collins A, Teague J, Keats BJ, Morton NE (1996) Linkage map integration. Genomics 36:157–162 - PubMed
    1. Engle EC, Castro AE, Macy ME, Knoll JHM, Beggs AH (1997) A gene for isolated congenital ptosis maps to a 3 cM region within 1p32-p34.1. Am J Hum Genet 60:1150–1157 - PMC - PubMed
    1. O'Connell JR, Weeks DE (1995) The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set—recording and fuzzy inheritance. Nat Genet 11:402–408 - PubMed
    1. Pegoraro E, Schimke RN, Arahata K, Hayashi Y, Stern H, Arks H, Glasberg MR, et al (1994) Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females. Am J Hum Genet 54:989–1003 - PMC - PubMed

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