Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.
Am J Hum Genet
; 99(2): 414-22, 2016 Aug 04.
Article
en En
| MEDLINE
| ID: mdl-27426735
ABSTRACT
tRNA synthetase deficiencies are a growing group of genetic diseases associated with tissue-specific, mostly neurological, phenotypes. In cattle, cytosolic isoleucyl-tRNA synthetase (IARS) missense mutations cause hereditary weak calf syndrome. Exome sequencing in three unrelated individuals with severe prenatal-onset growth retardation, intellectual disability, and muscular hypotonia revealed biallelic mutations in IARS. Studies in yeast confirmed the pathogenicity of identified mutations. Two of the individuals had infantile hepatopathy with fibrosis and steatosis, leading in one to liver failure in the course of infections. Zinc deficiency was present in all affected individuals and supplementation with zinc showed a beneficial effect on growth in one.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Alelos
/
Retardo del Crecimiento Fetal
/
Isoleucina-ARNt Ligasa
/
Hepatopatías
/
Discapacidad Intelectual
/
Hipotonía Muscular
/
Mutación
Tipo de estudio:
Prognostic_studies
Límite:
Adolescent
/
Animals
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
Idioma:
En
Revista:
Am J Hum Genet
Año:
2016
Tipo del documento:
Article
País de afiliación:
Alemania