Phosphatase and tensin homolog (PTEN) plays an important role in tumor suppression. A germline mutation in the PTEN gene 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 heterozygous PTEN mutation, 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.

中文翻译：

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在患有大头畸形和发育迟缓的患者中鉴定出一种新的错义PTEN突变

磷酸酶和张力蛋白同源物（PTEN）在肿瘤抑制中起重要作用。PTEN基因中的种系突变不仅诱发PTEN错构瘤肿瘤综合征，包括Cowden综合征，还诱发大头畸形/自闭症综合征。在这里，我们描述了一个患有大头畸形/自闭症综合征的男孩，它携带着一种新型的错义杂合性PTEN突变，c.959T> C（p.Leu320Ser）。有趣的是，在Cowden综合征患者中发现了先前报道的导致p.Leu320X的无意义突变。我们的情况可能暗示了基因型与表型的相关性。