ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
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54 citing papers in PubMed, 112 citations in OpenAlex.
- Novel genetic variants and atypical phenotypes in pediatric progressive familial intrahepatic cholestasis.Pediatric research · 2026Article
- Genetic testing in liver diseases: Clinical applications.JHEP reports : innovation in hepatology · 2026Review
- Progressive Familial Intrahepatic Cholestasis Type 7 in a 4 Month Old Female, Japanese Infant: A Case Report.Journal of paediatrics and child health · 2026Article
- [Analysis of familial intrahepatic cholestasis caused by ubiquitin-specific peptidase 53 gene mutation].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2026Article
- Cholestatic liver disease in an adolescent: don't forget progressive familial intrahepatic Cholestasis-8.Oxford medical case reports · 2026Article
- Challenges in the diagnosis and treatment of genetic cholestasis in adults.JHEP reports : innovation in hepatology · 2026Review
- AgileMultiIdeogram: Rapid Identification and Visualization of Autozygous Regions Using Illumina Short-Read Sequencing Data.Biology · 2025Article
- Discovery and mechanism of K63-linkage-directed deubiquitinase activity in USP53.Nature chemical biology · 2025Article
- Genotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis: a state-of-the-art review.Orphanet journal of rare diseases · 2025Review
- The role ofFrontiers in pediatrics · 2025Article
- Case Report: Mild BRIC-like cholestasis despite a grossFrontiers in genetics · 2025Article
- Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia.American journal of human genetics · 2024Article
- ZFYVE19 gene mutation: A novel variant of progressive familial intrahepatic cholestasis.JPGN reports · 2024Article
- USP53 Affects the Proliferation and Apoptosis of Breast Cancer Cells by Regulating the Ubiquitination Level of ZMYND11.Biological procedures online · 2024Article
- Cholestatic Liver Disease in a Child with KIF12 Mutation.Indian journal of pediatrics · 2024Article
- Diagnostic yield and novel candidate genes by next generation sequencing in 166 children with intrahepatic cholestasis.Hepatology international · 2024Article
- Genetics of liver disease in adults.Hepatology communications · 2024Review
- A novel case report of benign recurrent intrahepatic cholestasis-associated USP53 genetic mutation in a Pakistani girl.SAGE open medical case reports · 2024Article
- Opinion paper on the diagnosis and treatment of progressive familial intrahepatic cholestasis.JHEP reports : innovation in hepatology · 2024Article
- Patterns and unique features of infantile cholestasis among Arabs.Frontiers in pediatrics · 2024Article
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Authors and funding
15 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
purposeGenetic testing in pediatric cholestasis can be very informative but genetic causes have not been fully characterized.
methodsExome sequencing and positional mapping in seven families with cholestatic liver disease and negative clinical testing for known disease genes.
resultsKIF12, which encodes a microtubule motor protein with a tentative role in cell polarity, was found to harbor three homozygous likely deleterious variants in three families with sclerosing cholangitis. KIF12 expression is dependent on HNF-1β, deficiency which is known to cause bile duct dysmorphogenesis associated with loss of KIF12 expression. In another extended family, we mapped an apparently novel syndrome of sclerosing cholangitis, short stature, hypothyroidism, and abnormal tongue pigmentation in two cousins to a homozygous variant in PPM1F (POPX2), a regulator of kinesin-mediated ciliary transport. In the fifth family, a syndrome of normal gamma glutamyltransferase (GGT) cholestasis and hearing loss was found to segregate with a homozygous truncating variant in USP53, which encodes an interactor with TJP2. In the sixth family, we mapped a novel syndrome of transient neonatal cholestasis, intellectual disability, and short stature to a homozygous variant in LSR, an important regulator of liver development. In the last family of three affected siblings, a novel syndrome of intractable itching, hypercholanemia, short stature, and intellectual disability was mapped to a single locus that contains a homozygous truncating variant in WDR83OS (C19orf56), known to interact with ATP13A2 and BSEP.
conclusionOur results expand the genetic heterogeneity of pediatric cholestatic liver disease and highlight the vulnerability of bile homeostasis to a wide range of molecular perturbations.
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