Mamm Genome
Department of Genetics, Cell Biology and Anatomy, University of Nebraska Medical Center, Omaha, 68198, USA.
Published: July 2006
Unilateral renal agenesis (URA) is a common developmental defect in humans, occurring at a frequency of approximately 1 in 500-1,000 births. Several genetic syndromes include bilateral or unilateral renal agenesis as an associated phenotype. However, URA frequently occurs in individuals not afflicted by these syndromes and is often asymptomatic. Although it is clear that genetic factors contribute to the etiology of URA, the genetic bases of URA are poorly defined at this time. ACI rats, both males and females, exhibit URA at an incidence of 5%-15%. In this article we characterize the incidence of URA in female and male F(1), F(2), and backcross (BC) progeny from reciprocal genetic crosses between the ACI strain and the unaffected Brown Norway (BN) strain. Through interval mapping analyses of 353 phenotypically defined female F(2) progeny, we mapped to rat Chromosome 14 (RNO14) a genetic locus, designated Renag1 (Renal agenesis 1), that serves as the major determinant of URA in these crosses. Further genotypic analyses of URA-affected female and male F(2) and BC progeny localized Renag1 to a 14.4-Mb interval on RNO14 bounded by markers D14Rat50 and D14Rat12. The data from these genetic studies suggest that the ACI allele of Renag1 acts in an incompletely dominant and incompletely penetrant manner to confer URA.
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http://dx.doi.org/10.1007/s00335-006-0004-z | DOI Listing |
Front Vet Sci
December 2024
Department of Veterinary Surgery, College of Veterinary Medicine, Konkuk University, Seoul, Republic of Korea.
Obstructed hemivagina and ipsilateral renal agenesis (OHVIRA), also called Herlyn-Werner-Wunderlich syndrome, is an extremely rare Müllerian duct anomaly accompanied by Wolffian duct anomalies. A 10-year-old intact female Yorkshire Terrier weighing 3.35 kg was presented with anorexia, depression, vomiting, and abdominal pain.
View Article and Find Full Text PDFTaiwan J Obstet Gynecol
January 2025
Department of Obstetrics and Gynecology, Taipei Chang Gung Memorial Hospital, Taipei, Taiwan; School of Medicine, Chang Gung University, Taoyuan, Taiwan. Electronic address:
Objective: To describe a rare case of a retroperitoneal Müllerian cyst in a teenage girl with a protruding uterus and associated urogenital anomalies, and to discuss the challenges faced in differential diagnosis and management of such cases.
Case Report: We present the case of a 14-year-old girl presented with a protruding uterus for several weeks, with a history of twin-twin transfusion syndrome at birth. Initial ultrasonography identified a large pelvic cystic tumor.
J Clin Med
December 2024
Klinik für Frauenheilkunde und Geburtshilfe, Universitätsklinikum Ulm, 89075 Ulm, Germany.
: Endometriosis and urogenital malformation with uterus didelphys and renal agenesis might occur concomitantly, and the question arises whether both entities are associated with each other. : A literature search was conducted in PubMed and Web of Science, using the following search terms: "endometriosis and uterine malformation, endometriosis and Herlyn-Werner-Wunderlich syndrome", "endometriosis and OHVIRA (Obstructed Hemivagina and Ipsilateral Renal Anomaly) syndrome" and "uterus didelphys, renal agenesis and endometriosis". : We identified and examined 36 studies, comprising a total of 563 cases with coinciding endometriosis and OHVIRA.
View Article and Find Full Text PDFCureus
December 2024
Radiodiagnosis, MNR Medical College and Hospital, Sangareddy, IND.
Zinner syndrome is an extremely uncommon congenital anomaly of the male urogenital tract. It is attributed to an embryological anomaly that arises in the distal segment of the mesonephric or Wolffian duct. It is the inadequate migration of the ureteric bud that contributes to the failure of differentiation of the metanephric blastema, which ultimately results in ipsilateral renal agenesis and atresia of the ejaculatory duct.
View Article and Find Full Text PDFJ Med Genet
December 2024
John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA
Introduction: Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disorder classically associated with multiple basal cell carcinomas, odontogenic keratocysts and skeletal anomalies. However, its significant phenotypic heterogeneity often delays the diagnosis. Here, we undertake the first comprehensive characterisation of NBCCS and congenital urinary tract anomalies.
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