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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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.
|Digital Object Identifier (DOI):||doi:10.1007/s00439-002-0679-5|
|Keywords:||proteins, fluorescence, genetics, dna, analysis, comparative study, translocation,human, zinc, species specificity, in situ hybridization, chromosomes, mice, muscle, polymerase chain reaction, male|
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
|Date Deposited:||05 Sep 2008|
|Last Modified:||31 Mar 2016 12:42|
|RDF:||RDF+N-Triples, RDF+N3, RDF+XML, Browse.|
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