Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation.
Mol Genet Genomic Med
; 8(6): e1203, 2020 06.
Article
en En
| MEDLINE
| ID: mdl-32196989
ABSTRACT
BACKGROUND:
Hyaline fibromatosis syndrome is an autosomal recessive disease caused by mutations in ANTXR2 which leads to loss of function of the transmembrane protein anthrax toxin receptor 2. It is distinguished by characteristic skin lesions, gingival hyperplasia, joint and bone disease, and systemic involvement.METHODS:
Based on the case of an 11-year-old female patient with typical features of hyaline fibromatosis syndrome and the underlying pathogenic compound heterozygote variants in ANTXR2 we discuss the genetic and clinical aspects of hyaline fibromatosis syndrome.RESULTS:
The novel mutation in ANTXR2 (c.1223T>C, p.Leu408Pro variant) seems to allow for a protracted course of the disease.CONCLUSION:
Our findings add to the phenotypic, genetic, and biochemical spectrum of hyaline fibromatosis syndrome.Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Receptores de Péptidos
/
Síndrome de Fibromatosis Hialina
/
Mutación
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Child
/
Female
/
Humans
Idioma:
En
Año:
2020
Tipo del documento:
Article