Compound heterozygous missense and intronic variants in B9D1 contribute to a recurrent Meckel syndrome pedigree
This report presents a rare pedigree of recurrent MKS, in which two novel mutations in <i>B9D1</i> are identified. Our findings expand the mutation spectrum of <i>B9D1</i> and provide an accurate molecular diagnosis for genetic counseling.
Authors
- Bocheng Xu (ORCID: https://orcid.org/0000-0001-5403-0991)
- Shanling Liu (ORCID: https://orcid.org/0000-0001-8788-7991)
- Jingqun Mai
- Hongmei Jing (ORCID: https://orcid.org/0000-0003-4958-2489)
- He Wang (ORCID: https://orcid.org/0000-0002-9357-9693)
- Zhu Zhang (ORCID: https://orcid.org/0000-0002-7489-6917)
- Hao Wang (ORCID: https://orcid.org/0000-0002-1045-4642)
- Wencong Yao (ORCID: https://orcid.org/0009-0001-6598-7577)
Institutions
- Sichuan University (CN)
- West China Second University Hospital of Sichuan University (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-08-26
- DOI
- https://doi.org/10.3389/fgene.2025.1663455
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Natural Science Foundation of Sichuan Province
- National Key Research and Development Program of China