A novel splice site mutation in ANTXR2 (CMG2) gene results in systemic hyalinosis.
J Pediatr Hematol Oncol
; 33(8): e355-7, 2011 Dec.
Article
em En
| MEDLINE
| ID: mdl-22042284
ABSTRACT
Systemic hyalinosis is a rare autosomal recessive inheritance disease characterized by accumulation of amorphous, unidentified hyaline material in skin and other organs, which leads to papulonodular skin lesions, gingival hypertrophy, flexion contractures of the joints, and large subcutaneous tumors. It is composed of 2 allelic syndromes, infantile systemic hyalinosis and juvenile hyaline fibromatosis. Here we describe a patient with juvenile hyaline fibromatosis confirmed by clinical and histopathologic findings, and genetic analysis, which revealed a novel homozygous splice site mutation IVS14+1GâT on exon 14 in anthrax toxin receptor 2 gene.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Sítios de Splice de RNA
/
Síndrome da Fibromatose Hialina
/
Proteínas de Membrana
Limite:
Child
/
Female
/
Humans
Idioma:
En
Revista:
J Pediatr Hematol Oncol
Assunto da revista:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
China