Genetic homogeneity, high-resolution mapping, and mutation analysis of theurofacial (Ochoa) syndrome and exclusion of the glutamate oxaloacetate transaminase gene (GOT1) in the critical region as the disease gene

The urofacial (Ochoa) syndrome (UFS) is a rare autosomal recessive disorder characterized by abnormal facial expression and urinary abnormalities. Pre viously, we mapped the gene to a genomic interval of approximately 1 cM on chromosome region 10q23-24, using families from Columbia. Here we demonstra te genetic homogeneity of the syndrome through homozygosity mapping in Amer ican patients with Irish heritage. We established a physical map and identi fied novel polymorphic markers in the UFS critical region. Haplotype analys is using the new markers mapped the UFS gene within one YAC clone of 1,410 kb, We also determined the precise location of the gene encoding for glutam ate oxaloacetate transaminase (GOT1) within the new UFS critical region and determined its genomic structure. However, mutation analysis excluded GOT1 as a candidate for the UFS gene. Am. .J. Med, Genet, 84:454-459, 1999, (C) 1999 Wiley-Liss, Inc.