Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome.
J Hum Genet
; 63(4): 517-520, 2018 Apr.
Article
em En
| MEDLINE
| ID: mdl-29410511
ABSTRACT
Overgrowth, macrocephaly, accelerated osseous maturation, variable intellectual disability, and characteristic facial features are the main symptoms of Weaver syndrome, a rare condition caused by mutations in EZH2 gene. Recently, in four patients with Weaver-like symptoms without mutations in EZH2 gene, pathogenic variants in EED were described. We present another patient clinically diagnosed with Weaver syndrome in whom WES revealed an EED de novo mutation affecting two neighboring aminoacids, NM_003797.3c.917_919delinsCGG/p.(Arg306_Asn307delinsThrAsp) located in one allele (in cis). Our observation, together with previous reports suggests that EED gene testing is warranted in patients with the overgrowth syndrome features and suspicion of Weaver syndrome with normal results of EZH2 gene sequencing.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
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Deformidades Congênitas da Mão
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Anormalidades Craniofaciais
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Substituição de Aminoácidos
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Hipotireoidismo Congênito
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Complexo Repressor Polycomb 2
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Mutação
Limite:
Humans
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Infant
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Male
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article