Biallelic loss-of-function variants of EZH1 cause a novel developmental disorder with central precocious puberty.

Autor: Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan., Yoshida S; Department of Pediatrics, Nara Prefecture General Medical Center, Nara, Japan., Ogitani A; Department of Neonatal Intensive Care Unit, Nara Prefecture General Medical Center, Nara, Japan., Etani Y; Department of Gastroenterology, Nutrition and Endocrinology, Osaka Women's and Children's Hospital, Izumi, Japan., Yanagi K; Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan., Kaname T; Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Oct; Vol. 194 (10), pp. e63726. Date of Electronic Publication: 2024 May 30.
DOI: 10.1002/ajmg.a.63726
Abstrakt: Pathogenic variants of polycomb repressive complex-2 (PRC2) subunits are associated with overgrowth syndromes and neurological diseases. EZH2 is a major component of PRC2 and mediates the methylation of H3K27 trimethylation (H3K27me3). Germline variants of EZH2 have been identified as a cause of Weaver syndrome (WS), an overgrowth/intellectual disability (OGID) syndrome characterized by overgrowth, macrocephaly, accelerated bone age, intellectual disability (ID), and characteristic facial features. Germline variants of SUZ12 and EED, other components of PRC2, have also been reported in the WS or Weaver-like syndrome. EZH1 is a homolog of EZH2 that interchangeably associates with SUZ12 and EED. Recently, pathogenic variants of EZH1 have been reported in individuals with dominant and recessive neurodevelopmental disorders. We herein present sisters with biallelic loss-of-function variants of EZH1. They showed developmental delay, ID, and central precocious puberty, but not the features of WS or other OGID syndromes.
(© 2024 Wiley Periodicals LLC.)
Databáze: MEDLINE
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