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Case Reports
. 2004 Apr 1;126A(1):84-8.
doi: 10.1002/ajmg.a.20488.

Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome

Brenda A Shoo  1 , Elizabeth McPherson, Ethylin Wang Jabs
Affiliations
Case Reports

Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome

Brenda A Shoo et al. Am J Med Genet A. .

Abstract

Treacher Collins syndrome (TCS) or mandibulofacial dysostosis is an autosomal dominant disorder of craniofacial development with 60% of its cases arising de novo. Other modes of inheritance such as autosomal recessive, gonadal mosaicism, and chromosomal rearrangement have also been proposed. This syndrome can result from TCOF1 gene mutations. In this study we identified a TCOF1 1408delAG heterozygous mutation in a patient with the clinical diagnosis of TCS. This same mutation was found in the clinically unaffected mother's leukocytes, hair root bulbs, buccal mucosa, urine, and stool. The mother has a clinically unaffected child and the maternal grandparents do not have the mutation. Because the mother has the mutation in cells derived from all three germ layers, we suspected the mutation was nonpenetrant. However, we could not detect the mutation in her skin fibroblasts, suggesting she is mosaic secondary to cell type specific selection.

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