Multiple urinary tract malformations with likely recessive inheritance in a large Somalian kindred

Hoefele, Julia; Grimminger, H.; Hacker, Hans-Walter; Hildebrandt, Friedhelm

doi:10.1093/ndt/gfh514

Cited by 23 publications

(15 citation statements)

References 19 publications

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“…Nonetheless, based on available data, the pattern of transmission for isolated VUR is most consistent with multifactorial inheritance or autosomal-dominant inheritance with reduced penetrance (7,10). Recently, one kindred displaying multiple urinary tract malformations that include VUR and likely recessive inheritance has also been described (11).…”

Section: P Rimary Vesicoureteral Reflux (Vur) (Online Mendelianmentioning

confidence: 99%

Familial Vesicoureteral Reflux: Testing Replication of Linkage in Seven New Multigenerational Kindreds

Sanna‐Cherchi¹,

Reese²,

Hensle³

et al. 2005

Journal of the American Society of Nephrology

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Vesicoureteral reflux (VUR) (OMIM %193000), a common cause of childhood renal failure, is strongly influenced by hereditary factors. Familial VUR most closely conforms to autosomal-dominant inheritance, but because of variable penetrance and expressivity, large multigenerational pedigrees tractable to linkage analysis have been difficult to ascertain. A single genome-wide study of familial VUR has demonstrated linkage to chromosome 1p13, with 78% locus heterogeneity. Previous studies in humans have also suggested loci on chromosomes 6p21, 10q26, and 19q13, whereas mutations in ROBO2 were recently reported in some patients with VUR. Replication of these studies was attempted in seven previously undescribed families from Italy and the United States. Simulation studies, assuming 50% locus heterogeneity, showed that these kindreds had 85% power to replicate linkage and 53% power to achieve genome-wide significance at candidate intervals. Thirty-five markers on chromosomes 1p13, 3p12, 6p21, 10q26, and 19q13 were genotyped and analysis of linkage under a variety of models was performed. Parametric analysis excluded linkage to all candidate loci under genetic homogeneity; moreover, the data did not support statistically significant linkage under models of locus heterogeneity. Similarly, nonparametric, allele-sharing analysis did not reveal any evidence of linkage at any of the loci tested. Thus, despite sufficient power, linkage of familial VUR to previously reported candidate intervals could not be replicated. These data demonstrate substantial genetic heterogeneity of VUR and suggest that mapping strategies relying on a large number of kindreds or single "loaded" pedigrees will be most effective to achieve replication or detection of linkage.

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Section: P Rimary Vesicoureteral Reflux (Vur) (Online Mendelianmentioning

confidence: 99%

Familial Vesicoureteral Reflux: Testing Replication of Linkage in Seven New Multigenerational Kindreds

Sanna‐Cherchi¹,

Reese²,

Hensle³

et al. 2005

Journal of the American Society of Nephrology

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“…This includes ethnic differences in VUR frequency between Caucasian and African Americans [12], higher incidence of VUR in monozygotic compared with dizygotic twins [13], and the fact that tracking VUR within generations of a family shows a range of inheritance patterns, including multigenic [13], autosomal dominant with incomplete penetrance [1], autosomal recessive [14], and sex-linked [15].…”

Section: Introductionmentioning

confidence: 99%

Gene discovery and vesicoureteric reflux

Murawski

Gupta

2008

Pediatr Nephrol

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Vesicoureteric reflux (VUR) is a congenital urinary tract defect caused by abnormal insertion of the ureter within the bladder wall. This leads to a defective ureterovesical junction in which urine flows retrogradely from the bladder to the kidneys. Although VUR is associated with recurrent urinary tract infections, renal malformations, hypertension, and reflux nephropathy, its relationship to each of these clinical entities is poorly understood. Mutations in genes expressed by the developing kidney and urinary tract can cause VUR in mice, and some of these same genes have been identified in humans with VUR. By discovering the genes that are associated with VUR, new hypotheses will be generated such that, eventually, the relationship between VUR and its complications will be understood.

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“…The genetic background is important, as exemplified by patients with identical PAX2 mutations showing a broad interfamilial and intrafamilial variability of phenotypes. The importance of modifying genes has also been shown in Bardet-Biedl syndrome [30].…”

Section: Discussionmentioning

confidence: 92%

Disorders of sex development and Diamond-Blackfan anemia: is there an association?

et al. 2010

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Diamond-Blackfan anemia (DBA) is a rare disorder characterized by congenital pure red cell aplasia. Mutations in ribosomal protein S19 (RPS19) have been identified in 25% of DBA patients. More recently, mutations in other ribosomal protein genes, namely RPS7, RPS15, RPS24, RPS17, RPS27A, RPL35a, RPL36, RPL11, and RPL5, have also been found in patients with DBA. Approximately 30-40% of affected patients have various associated physical anomalies, mostly craniofacial and at the extremities, but also cardiac or urogenital malformations. Anomalies of the urogenital tract in DBA patients comprise changes in the kidney (dysplasia, agenesis, duplication, horseshoe kidney) and genitalia (hypospadias). To date, disorders of sex development (DSD) have only been described once in association with DBA. We report here four DBA patients who exhibited DSD.

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Multiple urinary tract malformations with likely recessive inheritance in a large Somalian kindred

Cited by 23 publications

References 19 publications

Familial Vesicoureteral Reflux: Testing Replication of Linkage in Seven New Multigenerational Kindreds

Familial Vesicoureteral Reflux: Testing Replication of Linkage in Seven New Multigenerational Kindreds

Gene discovery and vesicoureteric reflux

Disorders of sex development and Diamond-Blackfan anemia: is there an association?

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