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High resolution mapping and mutation analyses of candidate genes in the urofacial syndrome (UFS) critical region
Author(s) -
Wang CongYi,
DavoodiSemiromi Abodoreza,
Shi JingDa,
Yang Ping,
Huang YiQun,
Agundez Jose A. G.,
Moran Jose M.,
Ochoa Bernardo,
HawkinsLee Bobbilynn,
She JinXiong
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20042
Subject(s) - genetics , candidate gene , exon , biology , gene , disease gene identification , coding region , untranslated region , mutation , exome sequencing , rna
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. © 2003 Wiley‐Liss, Inc.