Publication: Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations
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Meyer, J., Südbeck, P., Held, M., Wagner, T., Schmitz, M. L., Bricarelli, F. D., Eggermont, E., Friedrich, U., Haas, O. A., Kobelt, A., Leroy, J. G., Van Maldergem, L., Michel, E., Mitulla, B., Pfeiffer, R. A., Schinzel, A., Schmidt, H., & Scherer, G. (1997). Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. Human Molecular Genetics, 6, 91–98. https://doi.org/10.1093/hmg/6.1.91
Abstract
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Abstract
It has previously been shown that, in the heterozygous state, mutations in the SOX9 gene cause campomelic dysplasia (CD) and the often associated autosomal XY sex reversal. In 12 CD patients, 10 novel mutations and one recurrent mutation were characterized in one SOX9 allele each, and in one case, no mutation was found. Four missense mutations are all located within the high mobility group (HMG) domain. They either reduce or abolish the DNA-binding ability of the mutant SOX9 proteins. Among the five nonsense and three frameshift mutat
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- Meyer, Jobst
- Südbeck, Peter
- Held, Marika
- Wagner, Thomas
- Schmitz, M Lienhard
- Eggermont, Ephrem
- Friedrich, Ursula
- Haas, Oskar A
- Kobelt, Albrecht
- Leroy, Jules G
- Van Maldergem, Lionel
- Michel, Erik
- Mitulla, Beate
- Pfeiffer, Rudolph A
- Schinzel, Albert
- Schmidt, Heinrich
- Scherer, Gerd
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Meyer, J., Südbeck, P., Held, M., Wagner, T., Schmitz, M. L., Bricarelli, F. D., Eggermont, E., Friedrich, U., Haas, O. A., Kobelt, A., Leroy, J. G., Van Maldergem, L., Michel, E., Mitulla, B., Pfeiffer, R. A., Schinzel, A., Schmidt, H., & Scherer, G. (1997). Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. Human Molecular Genetics, 6, 91–98. https://doi.org/10.1093/hmg/6.1.91
