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.
元の言語 | English |
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記事番号 | 25 |
ジャーナル | Human Genome Variation |
巻 | 6 |
発行部数 | 1 |
DOI | |
出版物ステータス | Published - 2019 12 1 |
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ASJC Scopus subject areas
- Biochemistry
- Genetics
- Molecular Biology
これを引用
A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay. / Ueno, Yuichi; Enokizono, Takashi; Fukushima, Hiroko; Ohto, Tatsuyuki; Imagawa, Kazuo; Tanaka, Mai; Sakai, Aiko; Suzuki, Hisato; Uehara, Tomoko; Takenouchi, Toshiki; Kosaki, Kenjiro; Takada, Hidetoshi.
:: Human Genome Variation, 巻 6, 番号 1, 25, 01.12.2019.研究成果: Article
}
TY - JOUR
T1 - A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay
AU - Ueno, Yuichi
AU - Enokizono, Takashi
AU - Fukushima, Hiroko
AU - Ohto, Tatsuyuki
AU - Imagawa, Kazuo
AU - Tanaka, Mai
AU - Sakai, Aiko
AU - Suzuki, Hisato
AU - Uehara, Tomoko
AU - Takenouchi, Toshiki
AU - Kosaki, Kenjiro
AU - Takada, Hidetoshi
PY - 2019/12/1
Y1 - 2019/12/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85069297416&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85069297416&partnerID=8YFLogxK
U2 - 10.1038/s41439-019-0056-8
DO - 10.1038/s41439-019-0056-8
M3 - Article
AN - SCOPUS:85069297416
VL - 6
JO - Human Genome Variation
JF - Human Genome Variation
SN - 2054-345X
IS - 1
M1 - 25
ER -