Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome.
The Treacher Collins-Franceschetti syndrome (TCOF) or mandibulofacial dysostosis (MFD) is an autosomal dominant disorder characterized by craniofacial abnormalities and hearing loss. A refined genetic linkage map of the TCOF locus was established in 8 independent families, using 12 microsatellite DNA markers of the distal 5q. Positive lod score values were obtained for all markers with a maximum at the D5S413 locus (Zmax = 3.79 at theta = 0%). Multipoint linkage analysis and haplotype analysis supported the location of the gene between loci D5S434 and D5S412. These results are consistent with previous linkage analyses [Dixon et al.: Am J Hum Genet 49:17-22, 1991, Am J Hum Genet 52:907-914, 1993; Jabs et al.: Genomics 11:193-198, 1991, Genomics 18:7-13, 1993] and provide further evidence of genetic homogeneity in this syndrome.
Edery
P
P
Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-393, Hôpital des Enfants Malades, Paris, France.
Manach
Y
Y
Le Merrer
M
M
Till
M
M
Vignal
A
A
Lyonnet
S
S
Munnich
A
A
D002895:Chromosomes, Human, Pair 5; D004276:DNA, Satellite / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000235:genetics*; D010375:Pedigree; D012091:Repetitive Sequences, Nucleic Acid
D004276:DNA, Satellite