title: High resolution mapping and mutation analyses of candidate genes in the urofacial syndrome (UFS) critical region.
abstract: The urofacial (Ochoa) syndrome (UFS) characterized by congenital obstructive uropathy and abnormal facial expression is a rare disorder caused by a single recessive disease gene. Our previous studies using homozygosity mapping have located the UFS gene to a genomic interval of approximately 360 kb on chromosome 10q23-10q24. In this study, we have constructed a genomic sequence map covering the entire UFS interval and narrowed the disease interval to a genomic region of 220 kb that harbor the newly identified ACDP1 gene in addition to part of the GOT1 gene which has already been excluded as a candidate for UFS. Extensive search for mutations in the coding region, the 5' and 3' untranslated regions, the promoter region, and the exon/intron junctions failed to identify a pathogenic mutation in UFS patients. Furthermore, our analyses indicated that the same gene on chromosome 10q is responsible for all UFS patients from multiple ethnic groups.
authors.affiliation: Center for Biotechnology and Genomic Medicine, Medical College of Georgia, Augusta, Georgia 30912, USA.
authors.forename: Cong-Yi
authors.initials: CY
authors.lastname: Wang
authors.forename: Abodoreza
authors.initials: A
authors.lastname: Davoodi-Semiromi
authors.forename: Jing-Da
authors.initials: JD
authors.lastname: Shi
authors.forename: Ping
authors.initials: P
authors.lastname: Yang
authors.forename: Yi-Qun
authors.initials: YQ
authors.lastname: Huang
authors.forename: Jose A G
authors.initials: JA
authors.lastname: Agundez
authors.forename: Jose M
authors.initials: JM
authors.lastname: Moran
authors.forename: Bernardo
authors.initials: B
authors.lastname: Ochoa
authors.forename: Bobbilynn
authors.initials: B
authors.lastname: Hawkins-Lee
authors.forename: Jin-Xiong
authors.initials: JX
authors.lastname: She
mesh_terms: D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10; D004252:DNA Mutational Analysis; D017931:DNA Primers; D019066:Facies; D005819:Genetic Markers; D006801:Humans; D018895:Microsatellite Repeats; D014570:Urologic Diseases / Q000235:genetics*
chemical_list: D017931:DNA Primers; D005819:Genetic Markers