Infantile systemic hyalinosis associated with a putative splice-site mutation in the ANTXR2 gene.
Clin Exp Dermatol
; 37(6): 635-8, 2012 Aug.
Article
em En
| MEDLINE
| ID: mdl-22300424
ABSTRACT
Infantile systemic hyalinosis (ISH) is a rare autosomal recessive genetic disorder characterized by dermal and subcutaneous fibromatosis, joint contractures and bone deformities. The condition usually presents at birth, resulting in death in infancy. ISH is caused by mutations in the anthrax toxin receptor 2 gene, ANTXR2, also known as CMG2. We report an Indian child with ISH in whom we identified a homozygous acceptor splice site mutation, IVS2-4G>A. In silico analysis of this sequence showed that it changed predicted cryptic splicing, leading to out-of-frame transcripts and little, if any, functional protein. Mutations in the ANTXR2 gene can also cause juvenile hyaline fibromatosis (JHF). Although there are currently no effective treatments for ISH or JHF, identification of pathogenetic mutations in the ANTXR2 gene makes DNA-based prenatal diagnosis feasible for subsequent pregnancies.
Texto completo:
1
Coleções:
01-internacional
Contexto em Saúde:
3_ND
Base de dados:
MEDLINE
Assunto principal:
Sítios de Splice de RNA
/
Síndrome da Fibromatose Hialina
/
Proteínas de Membrana
/
Mutação
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Female
/
Humans
/
Infant
Idioma:
En
Revista:
Clin Exp Dermatol
Ano de publicação:
2012
Tipo de documento:
Article