| Full text | |
| Author(s): Show less - |
Imagawa, Eri
[1]
;
Albuquerque, Edoarda V. A.
[2]
;
Isidor, Bertrand
[3]
;
Mitsuhashi, Satomi
[1]
;
Mizuguchi, Takeshi
[1]
;
Miyatake, Satoko
[1]
;
Takata, Atsushi
[1]
;
Miyake, Noriko
[1]
;
Boguszewski, Margaret C. S.
[4]
;
Boguszewski, Cesar L.
[5]
;
Lerario, Antonio M.
[6, 2]
;
Funari, Mariana A.
[7]
;
Jorge, Alexander A. L.
[2]
;
Matsumoto, Naomichi
[1]
Total Authors: 14
|
| Affiliation: | [1] Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa - Japan
[2] Univ Sao Paulo, Fac Med, Hosp Clin, Unidade Endocrinol Genet LIM25, Sao Paulo - Brazil
[3] Hop Hotel Dieu, Serv Genet Med, Nantes - France
[4] Univ Fed Parana, Dept Pediat, Curitiba, Parana - Brazil
[5] Univ Fed Parana, Dept Internal Med, Endocrine Div SEMPR, Curitiba, Parana - Brazil
[6] Univ Michigan, Dept Internal Med, Div Metab Endocrinol & Diabet, Ann Arbor, MI 48109 - USA
[7] Univ Sao Paulo, Fac Med, Hosp Clin, Lab Hormonios & Genet Mol LIM 42, Sao Paulo - Brazil
Total Affiliations: 7
|
| Document type: | Journal article |
| Source: | Clinical Genetics; v. 94, n. 5, p. 461-466, NOV 2018. |
| Web of Science Citations: | 9 |
| 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. (AU) | |
| FAPESP's process: | 13/03236-5 - New approaches and methodologies in molecular-genetic studies of growth and pubertal development disorders |
| Grantee: | Alexander Augusto de Lima Jorge |
| Support Opportunities: | Research Projects - Thematic Grants |
| FAPESP's process: | 13/02162-8 - Molecular pathogenesis and characterization of monogenic developmental diseases: a route to translational medicine |
| Grantee: | Berenice Bilharinho de Mendonça |
| Support Opportunities: | Research Projects - Thematic Grants |