A lethal phenotype associated with tissue plasminogen deficiency in humans.
Hum Genet
; 135(10): 1209-11, 2016 10.
Article
en En
| MEDLINE
| ID: mdl-27417437
ABSTRACT
The role of plasminogen in preventing thrombosis requires activation by tissue plasminogen activator (t-PA) encoded by PLAT. While case-control associations have been pursued for common variants in PLAT, no disease-causing mutations have been reported. We describe a consanguineous family with two children who died shortly after birth due to complications related to severe hydranencephaly and diaphragmatic hernia. A combined exome/autozygome analysis was carried out with informed consent. We identified a homozygous null mutation in PLAT that abrogated t-PA level in patient cells. This is the first reported human knockout mutation of PLAT. The apparent association with hydranencephaly, diaphragmatic hernia and postnatal lethality requires further validation.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Trombosis
/
Activador de Tejido Plasminógeno
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Predisposición Genética a la Enfermedad
Tipo de estudio:
Risk_factors_studies
Límite:
Humans
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Male
/
Newborn
Idioma:
En
Revista:
Hum Genet
Año:
2016
Tipo del documento:
Article
País de afiliación:
Arabia Saudita