ArticleAmerican journal of human genetics1997
Homozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 46 citations in OpenAlex.
- Translational Research for Pediatric Lower Urinary Tract Dysfunction.International neurourology journal · 2016Review
- Clinical and genetic characteristics for the Urofacial Syndrome (UFS).International journal of clinical and experimental pathology · 2014Review
- Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome.Journal of pediatric urology · 2011Article
- Urofacial syndrome: A subset of neurogenic bladder dysfunction syndromes?Indian journal of urology : IJU : journal of the Urological Society of India · 2010Article
- Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.American journal of human genetics · 2010Article
- Pediatric overactive bladder syndrome: pathophysiology and management.Paediatric drugs · 2007Review
- Can a congenital dysfunctional bladder be diagnosed from a smile? The Ochoa syndrome updated.Pediatric nephrology (Berlin, Germany) · 2004Review
- Prospects for whole genome linkage disequilibrium mapping in domestic dog breeds.Mammalian genome : official journal of the International Mammalian Genome Society · 2003Article
- Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36.American journal of human genetics · 2001Article
- Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein.American journal of human genetics · 2001Article
- Homozygosity mapping of the Achromatopsia locus in the Pingelapese.American journal of human genetics · 1999Article
- Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy.American journal of human genetics · 1999Article
- Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43.American journal of human genetics · 1998Article
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Authors and funding
5 authors at 2 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
The urofacial (Ochoa) syndrome (UFS) is a rare autosomal recessive disease characterized by congenital obstructive uropathy and abnormal facial expression. The patients present with enuresis, urinary-tract infection, hydronephrosis, and voiding dysfunctions as a result of neurogenic bladders. To map the UFS gene, a genome screen using a combination of homozygosity-mapping and DNA-pooling strategies was performed in 20 selected patients, one patient pool, and three control pools (unaffected relatives). After analyses of 36 randomly chosen markers, D10S677 was identified as being linked to and associated with UFS, as suggested by a significant excess of homozygosity in patients compared with that in unaffected relatives (P < 10(-6)), as well as by the allelic-frequency differences between the patient pool and control pools. Ten additional markers flanking D10S677 and covering a 22-cM region then were analyzed to fine-map the UFS gene by use of haplotype (linkage disequilibrium) analysis. All 31 patients were found to be homozygous for two closely linked markers (D10S1726 and D10S198) located approximately 5 cM telomeric to D10S677, whereas only 12% of the unaffected relatives were homozygous for both markers (P < 10(-19)). Several patients are heterozygous at two markers immediately flanking D10S1726/D10S198, one on the centromeric side (D10S1433) and the other on the telomeric side (D10S603). These recombinational events place the UFS gene near D10S1726/D10S198 and within a 1-cM interval defined by D10S1433 and D10S603 on chromosome 10q23-q24.
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