Biallelic pathogenic <i>TULP3</i> variants presenting as neonatal cholestasis, liver fibrosis and neurological manifestations
Severe neonatal cholestasis and/or neurological symptoms may be novel manifestations of disease in patients harbouring compound heterozygous <i>TULP3</i> variants. Missense variants in <i>TULP3</i> may impair ciliogenesis or normal cilia function by abolishing the normal expression or localisation of cilia proteins.
Authors
- Qinghe Xing (ORCID: https://orcid.org/0000-0003-1780-4761)
- Muqing Cao (ORCID: https://orcid.org/0000-0002-0352-6548)
- Jia-Qi Li (ORCID: https://orcid.org/0009-0004-3861-1066)
- Sixing Chen (ORCID: https://orcid.org/0000-0002-2646-9259)
- Zaisheng Lin
- Jian‐She Wang (ORCID: https://orcid.org/0000-0003-0823-586X)
- Ruida He
- Bin Yang
- Qing-Wen Shan (ORCID: https://orcid.org/0000-0001-8456-8450)
- Yan Li (ORCID: https://orcid.org/0000-0001-9360-2075)
- Cheng Ye
- Jiayan Feng
Institutions
- Guangxi Medical University (CN)
- Shanghai Ninth People's Hospital (CN)
- First Affiliated Hospital of GuangXi Medical University (CN)
- Children's Hospital of Fudan University (CN)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2025-06-27
- DOI
- https://doi.org/10.1136/jmg-2025-110658
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- National Key Research and Development Program of China