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Case report highlights heterozygous mutations in PTEN, indicating risks of macrocephaly and epilepsy.
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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Wang et al. (2025) studied this question.
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