Clinical genetics · 2018
Novel SUZ12 mutations in Weaver-like syndrome.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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Imagawa Eri, Albuquerque Edoarda V A, Isidor Bertrand, Mitsuhashi Satomi, Mizuguchi Takeshi, Miyatake Satoko, Takata Atsushi, Miyake Noriko, Boguszewski Margaret C S, Boguszewski César L, Lerario Antonio M, Funari Mariana A, Jorge Alexander A L, Matsumoto Naomichi
Аннотация
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.
Предметные рубрики MeSH
Abnormalities, MultipleAllelesAmino Acid SubstitutionCongenital HypothyroidismCraniofacial AbnormalitiesFaciesFemaleGenetic Association StudiesGenetic Predisposition to DiseaseGenotypeHand Deformities, CongenitalHumansMaleMutationNeoplasm ProteinsPedigreePhenotypePolycomb Repressive Complex 2Transcription Factors