A rare transcript homozygous variants in CLRN1(USH3A) causes Usher syndrome type 3 in a Chinese family
The CLRN1c.474T > A(NM_001256819.2) mutation is the causative variant in the Chinese family with USH3. The pathogenicity of different transcripts should be particularly considered in pathogenicity analysis.
Authors
- Wenjuan Ding (ORCID: https://orcid.org/0000-0001-6851-8488)
- Yufen Guo (ORCID: https://orcid.org/0000-0003-4736-1607)
- Baicheng Xu (ORCID: https://orcid.org/0000-0002-9291-9369)
- Xu Chen (ORCID: https://orcid.org/0000-0002-5166-083X)
- Xiaowen Liu (ORCID: https://orcid.org/0000-0003-4139-1127)
- Yiming Zhu (ORCID: https://orcid.org/0000-0003-2353-5713)
- Suyang Wang (ORCID: https://orcid.org/0009-0002-9139-1723)
- Jieyu Hu
Institutions
- Gansu Provincial Hospital (CN)
- Gansu Provincial Maternal and Child Health Hospital (CN)
- Lanzhou University Second Hospital (CN)
- Lanzhou University (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-09-20
- DOI
- https://doi.org/10.1186/s13023-024-03348-x
- Citations
- 2
- Primary Topic
- Hearing, Cochlea, Tinnitus, Genetics
- Type
- article
- Field-Weighted Citation Impact
- 0.72
Funders
- National Natural Science Foundation of China
- Natural Science Foundation of Gansu Province