Heterozygous Mutations of PTEN in Macrocephaly Patient With Epilepsy: A Case Report
Phosphatase and tensin homolog (PTEN), a tumor suppressor gene, is also associated with neurological phenotypes, including macrocephaly, Cowden syndrome, and autism spectrum disorder. We present a 34-year-old Chinese male who complained of recurrent seizures within one year. His occipital frontal circumference was 62.8 cm. Whole-exon sequencing revealed that he carried a heterozygous missense mutation of NM_000314.4:c.4375C > T (p.Met35Val) in PTEN gene. Therefore, heterozygous mutations of c.103A > G in PTEN may increase the risk of macrocephaly with epilepsy.
Authors
- Yilin Su
- Mingshu Mo (ORCID: https://orcid.org/0000-0002-4362-8194)
- Lan Wang
Institutions
- First Affiliated Hospital of Guangzhou Medical University (CN)
- Guangzhou Medical University (CN)
Publication Details
- Journal
- Case Reports in Medicine
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1155/carm/5190615
- Primary Topic
- PI3K/AKT/mTOR signaling in cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Guangzhou Science, Technology and Innovation Commission