Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence.
Am J Med Genet A
; 182(4): 804-807, 2020 04.
Article
em En
| MEDLINE
| ID: mdl-31880392
ABSTRACT
Fetal akinesia deformation sequence (FADS) is a clinically and genetically heterogeneous condition. Pathogenic variants in DOK7 are known to cause myasthenic syndrome, congenital, 10 (MIM#254300) and, rarely (reported in a single family) lethal FADS. Herein, we describe a biallelic variant c.1263dupC in DOK7, known to cause congenital myasthenic syndrome 10, causing lethal FADS in a consanguineous family. The present report illustrates wide phenotypic variability caused by biallelic pathogenic variants in DOK7. We also describe the second family with FADS due to pathogenic variants in DOK7.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Artrogripose
/
Anormalidades Múltiplas
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Deficiências do Desenvolvimento
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Feto
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Proteínas Musculares
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Mutação
Limite:
Female
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Humans
Idioma:
En
Revista:
Am J Med Genet A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Índia