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

Hum Genome Var. 2019 May 23:6:25. doi: 10.1038/s41439-019-0056-8. eCollection 2019.

Authors

Yuichi Ueno¹, Takashi Enokizono¹, Hiroko Fukushima^{1

2}, Tatsuyuki Ohto^{1

2}, Kazuo Imagawa¹, Mai Tanaka¹, Aiko Sakai¹, Hisato Suzuki³, Tomoko Uehara³, Toshiki Takenouchi³, Kenjiro Kosaki³, Hidetoshi Takada^{1

2}

Affiliations

¹ 1Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Japan.
² 2Department of Child Health, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.
³ 3Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

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.

Keywords: Autism spectrum disorders; Genetics of the nervous system.