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

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)

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

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics

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