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

Research output: Contribution to journal › Article › peer-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 language	English
Article number	25
Journal	Human Genome Variation
Volume	6
Issue number	1
DOIs	https://doi.org/10.1038/s41439-019-0056-8
Publication status	Published - 2019 Dec 1

ASJC Scopus subject areas

Biochemistry
Molecular Biology
Genetics

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title = "A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay",

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.",

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

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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.

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

Abstract

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