A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay.
Yuichi UenoTakashi EnokizonoHiroko FukushimaTatsuyuki OhtoKazuo ImagawaMai TanakaAiko SakaiHisato SuzukiTomoko UeharaToshiki TakenouchiKenjiro KosakiHidetoshi TakadaPublished in: Human genome variation (2019)
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.
Keyphrases
- case report
- cell proliferation
- pi k akt
- intellectual disability
- end stage renal disease
- autism spectrum disorder
- chronic kidney disease
- ejection fraction
- gene expression
- dna methylation
- prognostic factors
- transcription factor
- peritoneal dialysis
- signaling pathway
- genome wide
- dna damage
- dna repair
- protein kinase
- genome wide analysis