Abstract
Campomelic dysplasia (CD) is a rare skeletal malformation syndrome caused by mutations in the SRY related gene SOX9, mapped to 17q24.3-q25.1. A small proportion of cases are associated with structural rearrangements involving 17q and it has been proposed that this subgroup have a milder phenotype and better prognosis compared to those with mutations in the SOX9 gene. We report a severely affected infant with the acampomelic form of campomelic dysplasia, who died at 11 days and was found to have a de novo reciprocal translocation, 46,XX,t(5;17)(q15;q25.1). This is the second reported case of severe campomelic dysplasia associated with a structural rearrangement involving 17q and suggests that this subgroup of patients may not significantly differ from those without chromosomal rearrangements with regards to phenotype or prognosis.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Bell D. M., Leung K. K., Wheatley S. C., Ng L. J., Zhou S., Ling K. W., Sham M. H., Koopman P., Tam P. P., Cheah K. S. SOX9 directly regulates the type-II collagen gene. Nat Genet. 1997 Jun;16(2):174–178. doi: 10.1038/ng0697-174. [DOI] [PubMed] [Google Scholar]
- Foster J. W., Dominguez-Steglich M. A., Guioli S., Kwok C., Weller P. A., Stevanović M., Weissenbach J., Mansour S., Young I. D., Goodfellow P. N. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature. 1994 Dec 8;372(6506):525–530. doi: 10.1038/372525a0. [DOI] [PubMed] [Google Scholar]
- Houston C. S., Opitz J. M., Spranger J. W., Macpherson R. I., Reed M. H., Gilbert E. F., Herrmann J., Schinzel A. The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971. Am J Med Genet. 1983 May;15(1):3–28. doi: 10.1002/ajmg.1320150103. [DOI] [PubMed] [Google Scholar]
- Macpherson R. I., Skinner S. A., Donnenfeld A. E. Acampomelic campomelic dysplasia. Pediatr Radiol. 1989;20(1-2):90–93. doi: 10.1007/BF02010643. [DOI] [PubMed] [Google Scholar]
- Mansour S., Hall C. M., Pembrey M. E., Young I. D. A clinical and genetic study of campomelic dysplasia. J Med Genet. 1995 Jun;32(6):415–420. doi: 10.1136/jmg.32.6.415. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Tommerup N., Schempp W., Meinecke P., Pedersen S., Bolund L., Brandt C., Goodpasture C., Guldberg P., Held K. R., Reinwein H. Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1. Nat Genet. 1993 Jun;4(2):170–174. doi: 10.1038/ng0693-170. [DOI] [PubMed] [Google Scholar]
- Wagner T., Wirth J., Meyer J., Zabel B., Held M., Zimmer J., Pasantes J., Bricarelli F. D., Keutel J., Hustert E. Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell. 1994 Dec 16;79(6):1111–1120. doi: 10.1016/0092-8674(94)90041-8. [DOI] [PubMed] [Google Scholar]
- Wirth J., Wagner T., Meyer J., Pfeiffer R. A., Tietze H. U., Schempp W., Scherer G. Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9. Hum Genet. 1996 Feb;97(2):186–193. doi: 10.1007/BF02265263. [DOI] [PubMed] [Google Scholar]
- Young I. D., Zuccollo J. M., Maltby E. L., Broderick N. J. Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation. J Med Genet. 1992 Apr;29(4):251–252. doi: 10.1136/jmg.29.4.251. [DOI] [PMC free article] [PubMed] [Google Scholar]