A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay
A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay
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在患有大头畸形和发育迟缓的患者中发现了一种新的错义 PTEN 突变
DOI：
10.1038/s41439-019-0056-8
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发表时间：
2019
影响因子：
1.5
通讯作者：
Takada Hidetoshi
中科院分区：
文献类型：
--
作者：
Ueno Yuichi;Enokizono Takashi;Fukushima Hiroko;Ohto Tatsuyuki;Imagawa Kazuo;Tanaka Mai;Sakai Aiko;Suzuki Hisato;Uehara Tomoko;Takenouchi Toshiki;Kosaki Kenjiro;Takada Hidetoshi
磷酸酶和张力蛋白同源物(PTEN)在肿瘤抑制中发挥重要作用。PTEN基因的胚系突变不仅会导致PTEN错构瘤综合征，包括考登综合征，还会导致巨头症/自闭症综合征。在这里，我们描述了一名患有巨头症/自闭症综合征的男孩，该男孩携带一种新的错义杂合PTEN突变，C.959T>；C(p.Leu320Ser)。有趣的是，之前报道的导致P.Leu320X的无义突变在Cowden综合征患者中被发现。我们的病例可能暗示了一种基因-表型的相关性。
Phosphatase and tensin homolog (PTEN) plays an important role in tumor suppression. A germline mutation in thePTENgene induces not only PTEN hamartoma tumor syndrome, including Cowden syndrome, but also macrocephaly/autism syndrome. Here, we describe a boy with macrocephaly/autism syndrome harboring a novel missense heterozygousPTENmutation, c.959T>C (p.Leu320Ser). Interestingly, a previously reported nonsense mutation resulting in p.Leu320X was found in Cowden syndrome patients. Our case may be suggestive of a genotype-phenotype correlation.