Novel SUZ12 mutations in Weaver-like syndrome
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Citações na Scopus
32
Tipo de produção
article
Data de publicação
2018
Título da Revista
ISSN da Revista
Título do Volume
Editora
WILEY
Autores
IMAGAWA, Eri
ISIDOR, Bertrand
MITSUHASHI, Satomi
MIZUGUCHI, Takeshi
MIYATAKE, Satoko
TAKATA, Atsushi
MIYAKE, Noriko
BOGUSZEWSKI, Margaret C. S.
BOGUSZEWSKI, Cesar L.
Citação
CLINICAL GENETICS, v.94, n.5, p.461-466, 2018
Resumo
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.
Palavras-chave
SUZ12, Weaver syndrome, Weaver-like syndrome, whole exome sequencing
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