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
ePrint ID: 60045
Date Deposited: 05 Sep 2008
Last Modified: 27 Mar 2014 18:42
URI: http://eprints.soton.ac.uk/id/eprint/60045

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