ArticleKidney international2019
Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder.
Article in Kidney international, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 45 citations in OpenAlex.
- Review
- Lactylation modifications in urological diseases: molecular mechanisms and biological implications.Clinical epigenetics · 2025Review
- Current understanding of heparanase 2 regulation, a non-heparanase.Biochemical Society transactions · 2025Article
- Role of DNA methylation transferase in urinary system diseases: From basic to clinical perspectives (Review).International journal of molecular medicine · 2025Review
- Genetic Contributions to Lower Urinary Tract Dysfunction.American journal of medical genetics. Part A · 2025Article
- HumaneLife · 2024Article
- Nuclear localization of heparanase 2 (Hpa2) attenuates breast carcinoma growth and metastasis.Cell death & disease · 2024Article
- The utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction.Prenatal diagnosis · 2024Article
- The genetics and pathogenesis of CAKUT.Nature reviews. Nephrology · 2023Review
- Neurogenic Defects Occur inKidney international reports · 2023Article
- The term CAKUT has outlived its usefulness: the case for the prosecution.Pediatric nephrology (Berlin, Germany) · 2022Review
- LRIG1, a regulator of stem cell quiescence and a pleiotropic feedback tumor suppressor.Seminars in cancer biology · 2022Review
- Expanding theFrontiers in genetics · 2022Article
- Soluble LRIG2 is a potential biomarker for type 2 diabetes mellitus.Annals of translational medicine · 2021Article
- Neurophysiological control of urinary bladder storage and voiding-functional changes through development and pathology.Pediatric nephrology (Berlin, Germany) · 2021Review
- Early B-cell Factor 3-Related Genetic Disease Can Mimic Urofacial Syndrome.Kidney international reports · 2020Article
- CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations.American journal of human genetics · 2019Article
- A homozygous missense variant in CHRM3 associated with familial urinary bladder disease.Clinical genetics · 2019Article
- Congenital Disorders of the Human Urinary Tract: Recent Insights From Genetic and Molecular Studies.Frontiers in pediatrics · 2019Review
- Ochoa Syndrome - Neurogenic Bladder with an Inverted Smile.Indian journal of nephrologyArticle
Corrections and comments
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Authors and funding
18 authors at 10 institutions in 3 countries.
Funding
Abstract
Mutations in leucine-rich-repeats and immunoglobulin-like-domains 2 (LRIG2) or in heparanase 2 (HPSE2) cause urofacial syndrome, a devastating autosomal recessive disease of functional bladder outlet obstruction. It has been speculated that urofacial syndrome has a neural basis, but it is unknown whether defects in urinary bladder innervation are present. We hypothesized that urofacial syndrome features a peripheral neuropathy of the bladder. Mice with homozygous targeted Lrig2 mutations had urinary defects resembling those found in urofacial syndrome. There was no anatomical blockage of the outflow tract, consistent with a functional bladder outlet obstruction. Transcriptome analysis revealed differential expression of 12 known transcripts in addition to Lrig2, including 8 with established roles in neurobiology. Mice with homozygous mutations in either Lrig2 or Hpse2 had increased nerve density within the body of the urinary bladder and decreased nerve density around the urinary outflow tract. In a sample of 155 children with chronic kidney disease and urinary symptoms, we discovered novel homozygous missense LRIG2 variants that were predicted to be pathogenic in 2 individuals with non-syndromic bladder outlet obstruction. These observations provide evidence that a peripheral neuropathy is central to the pathobiology of functional bladder outlet obstruction in urofacial syndrome, and emphasize the importance of LRIG2 and heparanase 2 for nerve patterning in the urinary tract.
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