[Genetic analysis of a pedigree affected with Intellectual disability due to variants of two different genes].
Based on the clinical manifestations and the result of genetic testing, the heterozygous c.2563_2567dup (p.Lys856fs) variant of the UBE3A gene probably underlay the intellectual disability and developmental delay in the proband, whilst the heterozygous c.409+1G>A variant of the RNF13 gene may underlie the intellectual disability in the proband's mother and grandmother. Above results have enabled genetic counseling and prenatal diagnosis for this pedigree.
Authors
- Zengguo Ren
- Bing Zhang (ORCID: https://orcid.org/0000-0003-4363-919X)
- Xingxing Lei (ORCID: https://orcid.org/0009-0006-4564-9657)
- Ke Yang (ORCID: https://orcid.org/0000-0003-0022-0620)
- Tingting Shi (ORCID: https://orcid.org/0000-0001-5625-3670)
- Shixiu Liao (ORCID: https://orcid.org/0000-0003-3126-0027)
- Li Wang (ORCID: https://orcid.org/0000-0002-6813-8060)
- Litao Qin
Institutions
- Henan Provincial People's Hospital (CN)
Publication Details
- Journal
- PubMed
- Published
- 2024-11-10
- DOI
- https://doi.org/10.3760/cma.j.cn511374-20240426-00257
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00