Variable expression of campomelic dysplasia in a father and his 46, XY daughter
- PMID: 12687888
- DOI: 10.1080/pdp.22.1.37.46
Variable expression of campomelic dysplasia in a father and his 46, XY daughter
Abstract
Campomelic dysplasia (CD, MIM 114290) is characterised by widespread osseous abnormalities including bowing of the long bones, dysplasia of the cartilage of the tracheobronchial tree, and neurological abnormalities leading to high perinatal lethality. A majority of karyotypic males present as phenotypic females. The disorder has only recently been categorised as a dominantly transmitted entity after demonstration of heterozygous mutations in the SOX9 gene on chromosome 17q24.3 or translocations associated with breakpoints upstream of this gene. Despite this mode of transmission, only two well-documented instances of parent-child transmission of the disorder have been described. We report a man of normal intelligence with mild phenotypic and radiological appearances of CD. His first-born child, a phenotypic female with a 46,XY karyotype, presented with significantly more severe skeletal and neurological involvement. Parents of individuals with CD should be examined for minimal manifestations of the disorder, which may represent phenotypic variability in the syndrome or somatic mosaicism.
Similar articles
-
Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene.Clin Dysmorphol. 2001 Jul;10(3):197-201. doi: 10.1097/00019605-200107000-00009. Clin Dysmorphol. 2001. PMID: 11446414
-
A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal.Hum Mol Genet. 1996 Oct;5(10):1625-30. doi: 10.1093/hmg/5.10.1625. Hum Mol Genet. 1996. PMID: 8894698
-
Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia.Am J Hum Genet. 2005 Apr;76(4):652-62. doi: 10.1086/429252. Epub 2005 Feb 22. Am J Hum Genet. 2005. PMID: 15726498 Free PMC article.
-
Mutations in SOX9 cause both autosomal sex reversal and campomelic dysplasia.Acta Paediatr Jpn. 1996 Aug;38(4):405-11. doi: 10.1111/j.1442-200x.1996.tb03515.x. Acta Paediatr Jpn. 1996. PMID: 8840554 Review.
-
Campomelic dysplasia with XY sex reversal: diverse phenotypes resulting from mutations in a single gene.Ann N Y Acad Sci. 1996 Jun 8;785:137-49. doi: 10.1111/j.1749-6632.1996.tb56252.x. Ann N Y Acad Sci. 1996. PMID: 8702120 Review. No abstract available.
Cited by
-
Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia.Am J Hum Genet. 2005 Apr;76(4):663-71. doi: 10.1086/429254. Am J Hum Genet. 2005. PMID: 15717285 Free PMC article.
-
Neurosensory development and cell fate determination in the human cochlea.Neural Dev. 2013 Oct 16;8:20. doi: 10.1186/1749-8104-8-20. Neural Dev. 2013. PMID: 24131517 Free PMC article.
-
Long-term consequences of Sox9 depletion on inner ear development.Dev Dyn. 2010 Apr;239(4):1102-12. doi: 10.1002/dvdy.22259. Dev Dyn. 2010. PMID: 20201105 Free PMC article.
-
Transcriptome-Wide Analysis Reveals a Role for Extracellular Matrix and Integrin Receptor Genes in Otic Neurosensory Differentiation from Human iPSCs.Int J Mol Sci. 2021 Oct 7;22(19):10849. doi: 10.3390/ijms221910849. Int J Mol Sci. 2021. PMID: 34639189 Free PMC article.
-
Differential and overlapping expression pattern of SOX2 and SOX9 in inner ear development.Gene Expr Patterns. 2009 Sep;9(6):444-53. doi: 10.1016/j.gep.2009.04.003. Epub 2009 May 7. Gene Expr Patterns. 2009. PMID: 19427409 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Research Materials