Congenital hypothyroidism, cardiac defects, and pancreatic agenesis in an infant with GATA6 mutation.
Am J Med Genet A
; 182(6): 1496-1499, 2020 06.
Article
en En
| MEDLINE
| ID: mdl-32207556
ABSTRACT
GATA6 pathogenic variants primarily manifest a phenotype with pancreatic agenesis and cardiac malformations. However, additional congenital malformations affecting the biliary system, congenital diaphragmatic hernia and developmental delay have been reported. We report a newborn, prenatally diagnosed with truncus arteriosus and intrauterine growth restriction, who was postnatally found to have pancreatic agenesis associated with neonatal diabetes and hepatobiliary abnormalities. Whole exome sequencing identified a de novo, heterozygous mutation in the GATA6 gene (c.1366C>T; p.Arg456Cys). Further investigations revealed abnormalities not previously associated with GATA6 mutation, including unilateral thyroid lobe agenesis associated with congenital hypothyroidism, absent gall bladder, possible adrenal insufficiency, thrombocytopenia, and neonatal stroke.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Páncreas
/
Enfermedades Pancreáticas
/
Hipotiroidismo Congénito
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Factor de Transcripción GATA6
/
Cardiopatías Congénitas
Tipo de estudio:
Prognostic_studies
Límite:
Female
/
Humans
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Infant
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Male
/
Newborn
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2020
Tipo del documento:
Article
País de afiliación:
Canadá