A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay

Yuichi Ueno, Takashi Enokizono, Hiroko Fukushima, Tatsuyuki Ohto, Kazuo Imagawa, Mai Tanaka, Aiko Sakai, Hisato Suzuki, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki, Hidetoshi Takada

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Abstract

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.

Original languageEnglish
Article number25
JournalHuman Genome Variation
Volume6
Issue number1
DOIs
Publication statusPublished - 2019 Dec 1

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ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Molecular Biology

Cite this

Ueno, Y., Enokizono, T., Fukushima, H., Ohto, T., Imagawa, K., Tanaka, M., Sakai, A., Suzuki, H., Uehara, T., Takenouchi, T., Kosaki, K., & Takada, H. (2019). A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay. Human Genome Variation, 6(1), [25]. https://doi.org/10.1038/s41439-019-0056-8