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.
Original language | English (US) |
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Pages (from-to) | 9-14 |
Number of pages | 6 |
Journal | American Journal of Medical Genetics |
Volume | 119 A |
Issue number | 1 |
DOIs | |
State | Published - May 15 2003 |
Keywords
- Homozygosity mapping
- Microsatellite
- Mutation analysis
- Physical mapping
- Urofacial syndrome
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)