Novel SUZ12 mutations in Weaver-like syndrome

Eri Imagawa; Edoarda V.A. Albuquerque; Bertrand Isidor; Satomi Mitsuhashi; Takeshi Mizuguchi; Satoko Miyatake; Atsushi Takata; Noriko Miyake; Margaret C.S. Boguszewski; César L. Boguszewski; Antonio M. Lerario; Mariana A. Funari; Alexander A.L. Jorge; Naomichi Matsumoto

doi:10.1111/cge.13415

Novel SUZ12 mutations in Weaver-like syndrome

Eri Imagawa, Edoarda V.A. Albuquerque, Bertrand Isidor, Satomi Mitsuhashi, Takeshi Mizuguchi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Margaret C.S. Boguszewski, César L. Boguszewski, Antonio M. Lerario, Mariana A. Funari, Alexander A.L. Jorge, Naomichi Matsumoto

Research output: Contribution to journal › Article › peer-review

36 Scopus citations

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.

Original language	English
Pages (from-to)	461-466
Number of pages	6
Journal	Clinical Genetics
Volume	94
Issue number	5
DOIs	https://doi.org/10.1111/cge.13415
State	Published - Nov 2018
Externally published	Yes

Keywords

SUZ12
Weaver syndrome
Weaver-like syndrome
whole exome sequencing

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10.1111/cge.13415

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title = "Novel SUZ12 mutations in Weaver-like syndrome",

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",

author = "Eri Imagawa and Albuquerque, {Edoarda V.A.} and Bertrand Isidor and Satomi Mitsuhashi and Takeshi Mizuguchi and Satoko Miyatake and Atsushi Takata and Noriko Miyake and Boguszewski, {Margaret C.S.} and Boguszewski, {C{\'e}sar L.} and Lerario, {Antonio M.} and Funari, {Mariana A.} and Jorge, {Alexander A.L.} and Naomichi Matsumoto",

note = "Publisher Copyright: {\textcopyright} 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd",

year = "2018",

month = nov,

doi = "10.1111/cge.13415",

language = "English",

volume = "94",

pages = "461--466",

journal = "Clinical Genetics",

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T1 - Novel SUZ12 mutations in Weaver-like syndrome

AU - Imagawa, Eri

AU - Albuquerque, Edoarda V.A.

AU - Isidor, Bertrand

AU - Mitsuhashi, Satomi

AU - Mizuguchi, Takeshi

AU - Miyatake, Satoko

AU - Takata, Atsushi

AU - Miyake, Noriko

AU - Boguszewski, Margaret C.S.

AU - Boguszewski, César L.

AU - Lerario, Antonio M.

AU - Funari, Mariana A.

AU - Jorge, Alexander A.L.

AU - Matsumoto, Naomichi

PY - 2018/11

Y1 - 2018/11

N2 - 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.

AB - 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.

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KW - Weaver-like syndrome

KW - whole exome sequencing

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EP - 466

JO - Clinical Genetics

JF - Clinical Genetics

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ER -

Novel SUZ12 mutations in Weaver-like syndrome

Abstract

Keywords

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