A Novel <i>KMT2E</i> Splicing Variant as a Cause of O'Donnell–Luria–Rodan Syndrome With West Syndrome: Expansion of the Phenotype and Genotype
To our knowledge, this is the first definite report of ODLURO syndrome with West syndrome as the original manifestation. The deleterious effects of KMT2E c.1248_1248+9del were demonstrated in our proband. Splicing variants in the KMT2E gene are rare, and our study expands the phenotype and genotype of ODLURO syndrome. Additional studies are needed to explore the genotype-phenotype correlations of this disease.
Authors
- Qianyun Cai (ORCID: https://orcid.org/0000-0002-2134-8140)
- Fan Yang (ORCID: https://orcid.org/0000-0003-1391-5886)
- Rong Luo (ORCID: https://orcid.org/0000-0003-3982-8772)
- Haijiao Wang (ORCID: https://orcid.org/0000-0003-2209-2455)
- Qian Xiao (ORCID: https://orcid.org/0000-0002-6917-5402)
- Zhongjie Zhou (ORCID: https://orcid.org/0009-0000-8129-4116)
- Fan Feng (ORCID: https://orcid.org/0000-0003-4803-6005)
- Yanmei Tian
Institutions
- Sichuan University (CN)
- West China Second University Hospital of Sichuan University (CN)
- West China Hospital of Sichuan University (CN)
- Cipher Gene (China) (CN)
Publication Details
- Journal
- International Journal of Developmental Neuroscience
- Published
- 2025-03-11
- DOI
- https://doi.org/10.1002/jdn.70012
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- National Outstanding Youth Science Fund Project of National Natural Science Foundation of China