Child-onset hepatic glycogenosis and steatosis in PTEN-related disorder
Issued Date
2026-07-01
Resource Type
ISSN
17697212
eISSN
18780849
Scopus ID
2-s2.0-105038957443
Pubmed ID
42106060
Journal Title
European Journal of Medical Genetics
Volume
82
Rights Holder(s)
SCOPUS
Bibliographic Citation
European Journal of Medical Genetics Vol.82 (2026)
Suggested Citation
Sihaklang B., Vaseenon H., Lertudomphonwanit C., Sornmayura P., Getsuwan S., Treepongkaruna S., Wattanasirichaigoon D. Child-onset hepatic glycogenosis and steatosis in PTEN-related disorder. European Journal of Medical Genetics Vol.82 (2026). doi:10.1016/j.ejmg.2026.105082 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/116834
Title
Child-onset hepatic glycogenosis and steatosis in PTEN-related disorder
Corresponding Author(s)
Other Contributor(s)
Abstract
Bannayan-Riley-Ruvalcaba syndrome is a rare PTEN -related disorder characterized by macrocephaly, intellectual disability, autism, hamartomatous intestinal polyps, and pigmentation of the glans penis. We describe a novel pathogenic variant of PTEN , c.48del (p.Gln17LysfsTer7), along with the first description of hepatic glycogenosis and steatosis in a child with BRRS. We proposed that the mutation likely led to a release of the inhibition of the insulin signaling pathway in the liver, leading to increased glycogen production and de novo synthesis of fatty acids, as previously shown in mice. Our data further extend possible metabolic complications of PTEN -related disorder.