Journal Article

The <i>Twist</i> Gene, Although Not Disrupted In Saethre-Chotzen Patients With Apparently Balanced Translocations of 7p21, Is Mutated In Familial and Sporadic Cases

C.S. P. Rose, P. Patel, W. Reardon, S. Malcolm and R. M. Winter

in Human Molecular Genetics

Volume 6, issue 8, pages 1369-1373
Published in print August 1997 | ISSN: 0964-6906
Published online August 1997 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/6.8.1369
The Twist Gene, Although Not Disrupted In Saethre-Chotzen Patients With Apparently Balanced Translocations of 7p21, Is Mutated In Familial and Sporadic Cases

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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.

Journal Article.  3207 words.  Illustrated.

Subjects: Genetics and Genomics

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