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

• 福島, 紘子

• 大戸, 達之

• 高田, 英俊

• Ueno, Yuichi

• Enokizono, Takashi

• Imagawa, Kazuo

• Tanaka, Mai

• Sakai, Aiko

• Suzuki, Hisato

• Uehara, Tomoko

• Takenouchi, Toshiki

• Kosaki, Kenjiro

抄録

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.

収録刊行物

• Human Genome Variation

  Human Genome Variation 6 25-, 2019-05

  SPRINGER

キーワード

• Genetics
• Molecular Biology
• Biochemistry

詳細情報

• CRID: 1050565163352109952
• NII論文ID: 120007127824
• ISSN: 2054345X
• DOI: 10.1038/s41439-019-0056-8
• HANDLE: 2241/00159728
• Web Site: https://tsukuba.repo.nii.ac.jp/records/54305
• Web Site: https://www.nature.com/articles/s41439-019-0056-8.pdf
• Web Site: https://www.nature.com/articles/s41439-019-0056-8
• Web Site: https://search.jamas.or.jp/link/ui/2021139214
• 本文言語コード: en
• 資料種別: journal article
• データソース種別:
  • IRDB
  • Crossref
  • CiNii Articles
  • KAKEN