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- W2069969111 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." @default.
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- W2069969111 date "2003-04-16" @default.
- W2069969111 modified "2023-09-26" @default.
- W2069969111 title "High resolution mapping and mutation analyses of candidate genes in the urofacial syndrome (UFS) critical region" @default.
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- W2069969111 doi "https://doi.org/10.1002/ajmg.a.20042" @default.
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