Human Molecular Genetics, Vol 6, 1369-1373, Copyright © 1997 by Oxford University Press
CS Rose, P Patel, W Reardon, S Malcolm and RM Winter
The TWIST gene maps to 7p21 and mutations in the gene have been reported in
the Saethre-Chotzen form of craniosynostosis. The position of the
Saethre-Chotzen gene has previously been refined by FISH analysis of four
patients carrying balanced translocations involving 7p21 which suggested
that it was located between D7S488 and D7S503. We report here that the
breakpoints in four translocation patients do not interrupt the coding
sequence of the TWIST gene and thus most likely act through a positional
effect. Twelve Saethre-Chotzen cases were found to have TWIST mutations.
Four of these families had been used as part of the linkage study of the
Saethre-Chotzen locus. The mutations detected included missense and
nonsense mutations and three cases of a 21 bp duplication. Although
phenotypically diagnosed as having Saethre- Chotzen syndrome, three
families were found to have a pro250arg mutation of FGFR3.
ARTICLES
The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases
Unit of Molecular Genetics, Institute of Child Health, London, UK.
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