New mandibulofacial dysostosis study results from University of Utah described
2007 JUL 31 -- "Treacher Collins syndrome (TCS) is the prototypical mandibulofacial dysostosis syndrome, but other mandibulofacial dysostosis syndromes have been described. We report an infant with mandibulofacial dysostosis and an apparently balanced de novo 2;17 translocation," scientists writing in the American Journal of Medical Genetics Part a report. "She presented with severe lower eyelid colobomas requiring skin grafting malar and mandibular hypoplasia, bilateral microtia with external auditory canal atreasia, dysplastic ossicles, hearing loss, bilateral choanal stenosis, cleft palate without cleft lip, several oral frenula of the upper lip/gum, and micro-gnathia requiring trachcostorny. Her births were normal. Chromosome analysis at the 600-band level showed a 46,XX7t(2; 17)(q24.3-q23) karyotype. Sequencing of the entire TCOF1 coding region did not show evidence of a sequence variation. High-resolution genomic microarray analysis did not identify a cryptic imbalance. FISH mapping refined the breakpoints to 2q31.1 and 17q24.3-25.1 and showed the 2q31.1 breakpoint likely affects the HOXD gene cluster. several atypical findings ancl lack of an identifiable TCOF1 mutation suggest that this child has a provisionally unique mandibulofacial dysostosis syndrome. The apparently balanced de novo translocation provides candidate loci for atypical ancl TCOF1 mutation negative cases of TCS," wrote D.A. Stevenson and colleagues, University of Utah. The researchers concluded: "Based on the agreement of our findings with one previous case of mandibulofacial dysostosis With a 2q31.1 transocation, we hypothesize that misexpression of genes in the HOXD gene cluster produced the describcd phenotype in this patient." Stevenson and colleagues published their study in American Journal of Medical Genetics Part a (New mandibulofacial dysostosis study results from University of Utah described. American Journal of Medical Genetics Part a, 2007;143A(10):1053-1059). Additional information can be obtained by contacting D.A. Stevenson, University of Utah, Health Science Center, Dept. of Pediatrics, Division Med Genetics, 2C412 SOM, Salt Lake City, UT 84132, USA. The publisher of the American Journal of Medical Genetics Part a can be contacted at: Wiley-Liss, Division John Wiley & Sons Inc., 111 River St., Hoboken, NJ 07030, USA. Keywords: United States, Salt Lake City, Genetics, HOXD, Mandibulofacial Dysostosis, Syndrome, TCOF1, Translocation, Treacher-Collins Syndrome, University of Utah. This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2007, Life Science Weekly via NewsRx.com.
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