Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay.
Clin Genet
; 91(6): 913-917, 2017 Jun.
Article
em En
| MEDLINE
| ID: mdl-27891590
ABSTRACT
Recently, bi-allelic mutations in cytosolic isoleucyl-tRNA synthetase (IARS) have been described in three individuals with growth delay, hepatic dysfunction, and neurodevelopmental disabilities. Here we report an additional subject with this condition identified by whole-exome sequencing. Our findings support the association between this disorder and neonatal cholestasis with distinct liver pathology. Furthermore, we provide functional data on two novel missense substitutions and expand the phenotype to include mild developmental delay, skin hyper-elasticity, and hypervitaminosis D.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Deficiências do Desenvolvimento
/
Colestase
/
Retardo do Crescimento Fetal
/
Isoleucina-tRNA Ligase
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article