Human Molecular Genetics, Vol 6, 1079-1086, Copyright © 1997 by Oxford University Press
I Krebs, I Weis, M Hudler, JM Rommens, H Roth, SW Scherer, LC Tsui, EM Fuchtbauer, KH Grzeschik, K Tsuji and J Kunz
Saethre-Chotzen syndrome, a common autosomal dominant craniosynostosis in
humans, is characterized by brachydactyly, soft tissue syndactyly and
facial dysmorphism including ptosis, facial asymmetry, and prominent ear
crura. Previously, we identified a yeast artificial chromosome that
encompassed the breakpoint of an apparently balanced t(6;7) (q16.2;p15.3)
translocation associated with a mild form of Saethre-Chotzen syndrome. We
now describe, at the DNA sequence level, the region on chromosome 7
affected by this translocation event. The rearrangement occurred
approximately 5 kb 3' of the human TWIST locus and deleted 518 bp of
chromosome 7. The TWIST gene codes for a transcription factor containing a
basic helix-loop-helix (b-HLH) motif and has recently been described as a
candidate gene for Saethre-Chotzen syndrome, based on the detection of
mutations within the coding region. Potential exon sequences flanking the
chromosome 7 translocation breakpoint did not hit known genes in database
searches. The chromosome rearrangement downstream of TWIST is compatible
with the notion that this is a Saethre-Chotzen syndrome gene and implies
loss of function of one allele by a positional effect as a possible
mechanism of mutation to evoke the syndrome.
ARTICLES
Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome
Phillips-Universitat Marburg, Medizinisches Zentrum fur Humangenetik,Germany.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  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]
|
|
|
|
 |
|
 N. Ahituv, E. M. Rubin, and M. A. Nobrega Exploiting human-fish genome comparisons for deciphering gene regulation Hum. Mol. Genet., October 1, 2004; 13(suppl_2): R261 - R266. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. W. Scherer and E. D. Green Human chromosome 7 circa 2004: a model for structural and functional studies of the human genome Hum. Mol. Genet., October 1, 2004; 13(suppl_2): R303 - R313. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 K. Petrie, F. Guidez, L. Howell, L. Healy, S. Waxman, M. Greaves, and A. Zelent The Histone Deacetylase 9 Gene Encodes Multiple Protein Isoforms J. Biol. Chem., April 25, 2003; 278(18): 16059 - 16072. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 L. R. Howe, O. Watanabe, J. Leonard, and A. M. C. Brown Twist Is Up-Regulated in Response to Wnt1 and Inhibits Mouse Mammary Cell Differentiation Cancer Res., April 15, 2003; 63(8): 1906 - 1913. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A MÉGARBANÉ, M LE LORC'H, H ELGHEZAL, G JOLY, P GOSSET, N SOURATY, L SAMARAS, M PRIEUR, M VEKEMANS, C TURLEAU, et al. Pure partial 7p trisomy including the TWIST, HOXA, and GLI3 genes J. Med. Genet., March 1, 2001; 38(3): 178 - 182. [Full Text]
|
|
|
|
 |
|
 J. D. Lauderdale, J. S. Wilensky, E. R. Oliver, D. S. Walton, and T. Glaser 3' deletions cause aniridia by preventing PAX6 gene expression PNAS, November 16, 2000; (2000) 240398797. [Abstract] [Full Text]
|
|
|
|
|
|
J. KUNZ, M. HUDLER, B. FRITZ, G. GILLESSEN-KAESBACH, and E. PASSARGE Identification of a frameshift mutation in the gene TWIST in a family affected with Robinow-Sorauf syndrome J. Med. Genet., August 1, 1999; 36(8): 650 - 652. [Full Text]
|
|
|
|
|
|
J. D. Lauderdale, J. S. Wilensky, E. R. Oliver, D. S. Walton, and T. Glaser 3' deletions cause aniridia by preventing PAX6 gene expression PNAS, December 5, 2000; 97(25): 13755 - 13759. [Abstract] [Full Text] [PDF]
|
|