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

doi:10.1038/s41439-019-0056-8

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

研究成果: Article › 査読

3 被引用数 (Scopus)

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.

本文言語	English
論文番号	25
ジャーナル	Human Genome Variation
巻	6
号	1
DOI	https://doi.org/10.1038/s41439-019-0056-8
出版ステータス	Published - 2019 12 1

ASJC Scopus subject areas

生化学
分子生物学
遺伝学

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10.1038/s41439-019-0056-8

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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.

In: Human Genome Variation, Vol. 6, No. 1, 25, 01.12.2019.

研究成果: Article › 査読

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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.",

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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

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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.

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

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