Journal Article

Translocation Breakpoint Maps 5 kb 3′ from <i>TWIST</i> in a Patient Affected with Saethre-Chotzen Syndrome

Inge Krebs, Isabel Weis, Melanie Hudler, Johanna M. Rommens, Helmut Roth, Steven W. Scherer, Lap-Chee Tsui, Ernst-Martin Füchtbauer, Karl-Heinz Grzeschik, Kazushiro Tsuji and Jürgen Kunz

in Human Molecular Genetics

Volume 6, issue 7, pages 1079-1086
Published in print July 1997 | ISSN: 0964-6906
Published online July 1997 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/6.7.1079
Translocation Breakpoint Maps 5 kb 3′ from TWIST in a Patient Affected with Saethre-Chotzen Syndrome

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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 ∼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.

Journal Article.  6216 words.  Illustrated.

Subjects: Genetics and Genomics

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