A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome Communicated by Gregg Semenza Online Citation: Human Mutation , Mutation in Brief #507 (2001) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/507.pdf
dc.contributor.author | Innis, Jeffrey W. | en_US |
dc.contributor.author | Goodman, Frances R. | en_US |
dc.contributor.author | Bacchelli, Chiara | en_US |
dc.contributor.author | Williams, Thomas M. | en_US |
dc.contributor.author | Mortlock, Douglas P. | en_US |
dc.contributor.author | Sateesh, Praveen | en_US |
dc.contributor.author | Scambler, Peter J. | en_US |
dc.contributor.author | McKinnon, Wendy | en_US |
dc.contributor.author | Guttmacher, Alan E. | en_US |
dc.date.accessioned | 2006-04-19T14:15:05Z | |
dc.date.available | 2006-04-19T14:15:05Z | |
dc.date.issued | 2002-05 | en_US |
dc.identifier.citation | Innis, Jeffrey W.; Goodman, Frances R.; Bacchelli, Chiara; Williams, Thomas M.; Mortlock, Douglas P.; Sateesh, Praveen; Scambler, Peter J.; McKinnon, Wendy; Guttmacher, Alan E. (2002)."A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome Communicated by Gregg Semenza Online Citation: Human Mutation , Mutation in Brief #507 (2001) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/507.pdf ." Human Mutation 19(5): 573-574. <http://hdl.handle.net/2027.42/35180> | en_US |
dc.identifier.issn | 1059-7794 | en_US |
dc.identifier.issn | 1098-1004 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/35180 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=11968094&dopt=citation | en_US |
dc.description.abstract | Guttmacher syndrome, a dominantly inherited combination of distal limb and genital tract abnormalities, has several features in common with hand-foot-genital syndrome (HFGS), including hypoplastic first digits and hypospadias. The presence of features not seen in HFGS, however, including postaxial polydactyly of the hands and uniphalangeal 2 nd toes with absent nails, suggests that it represents a distinct entity. HFGS is caused by mutations in the HOXA13 gene. We have therefore re-investigated the original Guttmacher syndrome family, and have found that affected individuals are heterozygous for a novel missense mutation in the HOXA13 homeobox (c.1112A>T; homeodomain residue Q50L), which arose on an allele already carrying a novel 2-bp deletion (-78-79delGC) in the gene’s highly conserved promoter region. This deletion produces no detectable abnormalities on its own, but may contribute to the phenotype in the affected individuals. The missense mutation, which alters a key residue in the recognition helix of the homeodomain, is likely to perturb HOXA13’s DNA-binding properties, resulting in both a loss and a specific gain of function. © 2002 Wiley-Liss, Inc. | en_US |
dc.format.extent | 170489 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Wiley Subscription Services, Inc., A Wiley Company | en_US |
dc.subject.other | Life and Medical Sciences | en_US |
dc.subject.other | Genetics | en_US |
dc.title | A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome Communicated by Gregg Semenza Online Citation: Human Mutation , Mutation in Brief #507 (2001) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/507.pdf | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Departments of Human Genetics and Pediatrics, University of Michigan, Ann Arbor, MI ; Department of Human Genetics, University of Michigan, Med. Sci. II 4811, Ann Arbor, MI 48109-0618; Tel.: 734-647-3817; Fax: 734-763-3784 | en_US |
dc.contributor.affiliationum | Departments of Human Genetics and Pediatrics, University of Michigan, Ann Arbor, MI | en_US |
dc.contributor.affiliationum | Departments of Human Genetics and Pediatrics, University of Michigan, Ann Arbor, MI | en_US |
dc.contributor.affiliationum | Departments of Human Genetics and Pediatrics, University of Michigan, Ann Arbor, MI | en_US |
dc.contributor.affiliationother | Molecular Medicine Unit, Institute of Child Health, London, UK | en_US |
dc.contributor.affiliationother | Molecular Medicine Unit, Institute of Child Health, London, UK | en_US |
dc.contributor.affiliationother | Molecular Medicine Unit, Institute of Child Health, London, UK | en_US |
dc.contributor.affiliationother | Vermont Regional Genetics Center, Burlington, VT | en_US |
dc.contributor.affiliationother | National Human Genome Research Institute, National Institutes of Health, Bethesda, MD | en_US |
dc.identifier.pmid | 11968094 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/35180/1/9036_ftp.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1002/humu.9036 | en_US |
dc.identifier.source | Human Mutation | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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