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A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation

McMullan, Tristan W., Crolla, John A., Gregory, Simon G., Carter, Nigel P., Cooper, Rachel A., Howell, Gareth R. and Robinson, David O. (2002) A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation Human Genetics, 110, (3), pp. 244-250. (doi:10.1007/s00439-002-0679-5).

Record type: Article


Ptosis is defined as drooping of the upper eyelid and can impair full visual acuity. It occurs in a number of forms including congenital bilateral isolated ptosis, which may be familial and for which two linkage groups are known on chromosomes 1p32-34.1 and Xq24-27.1. We describe the analysis of the chromosome breakpoints in a patient with congenital bilateral isolated ptosis and a de novo balanced translocation 46,XY,t(1;8)(p34.3;q21.12). Both breakpoints were localized by fluorescence in situ hybridisation with yeast artificial chromosomes, bacterial artificial chromosomes and P1 artificial chromosomes. The derived chromosomes were isolated by flow-sorting, amplified by degenerate oligonucleotide-primed polymerase chain reaction and analyzed by sequence tagged sites amplification to map the breakpoints at a resolution that enabled molecular characterization by DNA sequencing. The 1p breakpoint lies ~13 Mb distal to the previously reported linkage locus at 1p32-1p34.1 and does not disrupt a coding sequence, whereas the chromosome 8 breakpoint disrupts a gene homologous to the mouse zfh-4gene. Murine zfh-4 codes for a zinc finger homeodomain protein and is a transcription factor expressed in both muscle and nerve tissue. Human ZFH-4 is therefore a candidate gene for congenital bilateral isolated ptosis.

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Published date: March 2002
Keywords: proteins, fluorescence, genetics, dna, analysis, comparative study, translocation, human, zinc, species specificity, in situ hybridization, chromosomes, mice, muscle, polymerase chain reaction, male


Local EPrints ID: 60045
ISSN: 0340-6717
PURE UUID: 4db8c7b9-fcd9-4757-9375-bd03137360cb

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Date deposited: 05 Sep 2008
Last modified: 17 Jul 2017 14:23

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Author: Tristan W. McMullan
Author: John A. Crolla
Author: Simon G. Gregory
Author: Nigel P. Carter
Author: Rachel A. Cooper
Author: Gareth R. Howell
Author: David O. Robinson

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