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), 244-250. (doi:10.1007/s00439-002-0679-5).
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Description/Abstract
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.
| Item Type: | Article |
|---|---|
| ISSNs: | 0340-6717 (print) |
| Related URLs: | |
| Keywords: | proteins, fluorescence, genetics, dna, analysis, comparative study, translocation,human, zinc, species specificity, in situ hybridization, chromosomes, mice, muscle, polymerase chain reaction, male |
| Subjects: | R Medicine R Medicine > RM Therapeutics. Pharmacology Q Science > QR Microbiology |
| Divisions: | University Structure - Pre August 2011 > School of Medicine > Community Clinical Sciences University Structure - Pre August 2011 > School of Medicine University Structure - Pre August 2011 > School of Medicine > Human Genetics |
| Item ID: | 60045 |
| Date Deposited: | 05 Sep 2008 |
| Last Modified: | 01 Jun 2011 05:05 |
| Contributors: | McMullan, Tristan W. (Author) Crolla, John A. (Author) Gregory, Simon G. (Author) Carter, Nigel P. (Author) Cooper, Rachel A. (Author) Howell, Gareth R. (Author) Robinson, David O. (Author) |
| Date: | March 2002 |
| Status: | Published |
| URI: | http://eprints.soton.ac.uk/id/eprint/60045 |
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