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a Duncan Guthrie
Institute of Medical Genetics, Yorkhill, Glasgow G3 8SJ, UK, b Departments of Medical Genetics, Plastic and
Reconstructive Surgery, and Thoracic Surgery, Erciyes University
Medical Faculty, 38039 Kayseri, Turkey, c Department of Radiology, Royal Hospital for Sick
Children, Edinburgh EH9 1LF, UK, d Clinical
Genetics, Western General Hospital, Edinburgh EH4 2XU, UK, e Molecular Medicine Unit,
Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK
Correspondence to: Ms Gordon (molecular), caf2e{at}pop-server.cent.gla.ac.uk or Dr Dundar (clinical), mdundar{at}hotmail.com
Revised version received 31 January 2001;
Accepted for publication 2
February 2001
F syndrome (acropectorovertebral syndrome) is a dominantly
inherited skeletal dysplasia affecting the hands, feet, sternum, and
lumbosacral spine, which has previously been described in only two
families. Here we report a six generation Turkish family with a related
but distinct dominantly inherited acropectoral syndrome. All 22 affected subjects have soft tissue syndactyly of all fingers and all
toes and 14 also have preaxial polydactyly of the hands and/or feet. In
addition, 14 have a prominent upper sternum and/or a blind ending,
inverted U shaped sinus in the anterior chest wall. Linkage studies and
haplotype analysis carried out in 16 affected and nine unaffected
members of this family showed that the underlying locus maps to a 6.4 cM interval on chromosome 7q36, between EN2
and D7S2423, a region to which a locus for preaxial polydactyly and
triphalangeal thumb-polysyndactyly has previously been mapped. Our
findings expand the range of phenotypes associated with this locus to
include total soft tissue syndactyly and sternal deformity, and suggest
that F syndrome may be another manifestation of the same genetic
entity. In mice, ectopic expression of the gene
Sonic hedgehog
(Shh) in limb buds and lateral plate mesoderm during development causes preaxial polydactyly and sternal defects respectively, suggesting that misregulation of
SHH may underlie the unusual combination of
abnormalities in this family. A recently proposed candidate gene for
7q36 linked preaxial polydactyly is LMBR1,
encoding a novel transmembrane receptor which may be an upstream
regulator of SHH.
This article has been cited by other articles:
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  M Sun, F Ma, X Zeng, Q Liu, X-L Zhao, F-X Wu, G-P Wu, Z-F Zhang, B Gu, Y-F Zhao, et al. Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer J. Med. Genet., September 1, 2008; 45(9): 589 - 595. [Abstract] [Full Text] [PDF]
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E Klopocki, C-E Ott, N Benatar, R Ullmann, S Mundlos, and K Lehmann A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome J. Med. Genet., June 1, 2008; 45(6): 370 - 375. [Abstract] [Full Text] [PDF]
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S M Gribble, D Kalaitzopoulos, D C Burford, E Prigmore, R R Selzer, B L Ng, N S W Matthews, K M Porter, R Curley, S J Lindsay, et al. Ultra-high resolution array painting facilitates breakpoint sequencing J. Med. Genet., January 1, 2007; 44(1): 51 - 58. [Abstract] [Full Text] [PDF]
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H Thiele, C McCann, S van't Padje, G C Schwabe, H C Hennies, G Camera, J Opitz, R Laxova, S Mundlos, and P Nurnberg Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36 J. Med. Genet., March 1, 2004; 41(3): 213 - 218. [Full Text] [PDF]
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 L. A. Lettice, T. Horikoshi, S. J. H. Heaney, M. J. van Baren, H. C. van der Linde, G. J. Breedveld, M. Joosse, N. Akarsu, B. A. Oostra, N. Endo, et al. Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly PNAS, May 28, 2002; 99(11): 7548 - 7553. [Abstract] [Full Text] [PDF]
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