巨头畸形伴癫痫患者PTEN杂合突变1例。

IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL

Case Reports in Medicine Pub Date : 2025-07-25 eCollection Date: 2025-01-01 DOI:10.1155/carm/5190615

Lan Wang, Yilin Su, Mingshu Mo

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引用次数: 0

摘要

磷酸酶和紧张素同源物（PTEN）是一种肿瘤抑制基因，也与神经系统表型相关，包括大头畸形、考登综合征和自闭症谱系障碍。我们报告一位34岁的中国男性，在一年内自诉反复发作。枕额围62.8 cm。全外显子测序结果显示，他携带一个杂合错义突变NM_000314.4:c。PTEN基因中的4375C > T （p.Met35Val）。因此，PTEN中c.103A > G的杂合突变可能会增加癫痫大头畸形的风险。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Heterozygous Mutations of PTEN in Macrocephaly Patient With Epilepsy: A Case Report.

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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.

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来源期刊

Case Reports in Medicine MEDICINE, GENERAL & INTERNAL-

CiteScore

1.70

自引率

0.00%

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审稿时长

13 weeks