ArticleCase reports in medicine2025
Heterozygous Mutations of PTEN in Macrocephaly Patient With Epilepsy: A Case Report.
Article in Case reports in medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
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.
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