2. Academic Validation
  3. Novel SUZ12 mutations in Weaver-like syndrome

Novel SUZ12 mutations in Weaver-like syndrome

  • Clin Genet. 2018 Nov;94(5):461-466. doi: 10.1111/cge.13415.
Eri Imagawa 1,  Edoarda V A Albuquerque 2,  Bertrand Isidor 3,  Satomi Mitsuhashi 1,  Takeshi Mizuguchi 1,  Satoko Miyatake 1,  Atsushi Takata 1,  Noriko Miyake 1,  Margaret C S Boguszewski 4,  César L Boguszewski 5,  Antonio M Lerario 2 6,  Mariana A Funari 7,  Alexander A L Jorge 2,  Naomichi Matsumoto 1
Affiliations

Affiliations

  • 1 Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • 2 Unidade de Endocrinologia Genetica (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.
  • 3 Service de Génétique Médicale, Hôpital Hôtel-Dieu, Nantes, France.
  • 4 Department of Pediatrics, Federal University of Paraná, Curitiba, Brazil.
  • 5 Department of Internal Medicine, Endocrine Division (SEMPR), Federal University of Paraná, Curitiba, Brazil.
  • 6 Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan, Ann Arbor, Michigan.
  • 7 Laboratorio de Hormonios e Genetica Molecular (LIM/42), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.
PMID: 30019515 DOI: 10.1111/cge.13415
Abstract

SUZ12 is a core component of polycomb repressive complex 2 (PRC2) along with EZH2 and EED. Recently, germline mutations in the SUZ12, EZH2 and EED genes have been reported in Weaver syndrome (WS) or Weaver-like syndrome, suggesting a functional link between PRC2 deficits and WS. However, only one case of a SUZ12 mutation presenting with Weaver-like syndrome has been reported. Here, we report a missense and a frameshift mutation in SUZ12 (c.1797A>C; p.Gln599His and c.844_845del; p.Ala282Glnfs*7), both of which are novel, in two individuals. Their clinical features included postnatal overgrowth, increased bifrontal diameter, large ears, round face, horizontal chin crease and skeletal anomalies, but did not fulfill the WS diagnostic criteria. These data provide strong evidence that SUZ12 mutations cause Weaver-like syndrome.

Keywords

SUZ12; Weaver syndrome; Weaver-like syndrome; whole exome sequencing.

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