[Analysis of clinical phenotype and gene variation of a child with neurodevelopmental disorder caused by homozygous variation of TRAPPC6B gene].
The frameshift variation of TRAPPC6B gene c.240_241delAA (p.Q80Hfs*34) has not been reported, which may be the genetic cause of neurodevelopmental disorders in child in this study. These findings expand the variation spectrum of TRAPPC6B gene and provide basis for genetic counseling and prenatal diagnosis of this family.
Authors
- Yuke Li
- Linfei Li (ORCID: https://orcid.org/0000-0002-5217-3005)
- Wenxia Li (ORCID: https://orcid.org/0009-0001-8663-6397)
- Qing Shang (ORCID: https://orcid.org/0000-0002-1839-4795)
- Weimeng Li
- Baiyun Chen (ORCID: https://orcid.org/0000-0002-4010-9890)
- Xiaoman Zhang (ORCID: https://orcid.org/0000-0003-4821-203X)
Institutions
- Zhengzhou Children's Hospital (CN)
Publication Details
- Journal
- PubMed
- Published
- 2025-02-10
- DOI
- https://doi.org/10.3760/cma.j.cn511374-20240918-00497
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00