Wang Lan, Su Yilin, Mo Mingshu
Department of Neurology, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.
Case Rep Med. 2025 Jul 25;2025:5190615. doi: 10.1155/carm/5190615. eCollection 2025.
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.
磷酸酶与张力蛋白同源物（PTEN）是一种肿瘤抑制基因，也与神经学表型有关，包括巨头畸形、考登综合征和自闭症谱系障碍。我们报告一名34岁的中国男性，他主诉在一年内反复发作癫痫。他的枕额周长为62.8厘米。全外显子组测序显示，他在PTEN基因中携带一个杂合错义突变NM_000314.4:c.4375C＞T（p.Met35Val）。因此，PTEN基因中c.103A＞G的杂合突变可能会增加患巨头畸形伴癫痫的风险。
