A novel MAP3K7 mutation in a child with cardiospondylocarpofacial syndrome and orofacial clefting.
Clin Genet
; 103(2): 254-255, 2023 02.
Article
em En
| MEDLINE
| ID: mdl-36320120
Here we present the case of a patient with a novel de novo, likely pathogenic, heterozygous MAP3K7 variant (c.528dupT, p.G177WfsX5) causing cardiospondylocarpofacial syndrome (CSCFS). The variant, which falls in exon 6, is the first frameshift or non-sense mutation to be connected to CSCFS and presents with a phenotype that shares features with other MAP3K7-linked pathologies, including frontometaphyseal dysplasia 2 (FMD2) and the syndrome arising from an interstitial 6q15 deletions which envelop the gene. Other known mutations associated with CSCFS are plotted in black text (1,2,3).
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Osteosclerose
/
Anormalidades Múltiplas
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Insuficiência da Valva Mitral
Limite:
Child
/
Humans
Idioma:
En
Revista:
Clin Genet
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Canadá
País de publicação:
Dinamarca