Advances in acromelic dysplasia caused by FBN1 mutation
10.3760/cma.j.issn.1673-4408.2023.07.005
- VernacularTitle:FBN1基因突变致肢端发育不良的研究进展
- Author:
Huifei LU
1
;
Chunlin WANG
Author Information
1. 浙江大学医学院附属第一医院儿科，杭州 310003
- Keywords:
FBN1 gene;
Acromelic dysplasia;
Short stature;
Acromicric dysplasia;
Geleophysic dysplasia
- From:
International Journal of Pediatrics
2023;50(7):447-451
- CountryChina
- Language:Chinese
-
Abstract:
The mutation of FBN1 gene results in the abnormality of its encoded fibrillin-1 protein, which affects musculoskeletal growth and results in two opposing phenotypes of tall and short stature, with clinical manifestations of Marfan syndrome and acromelic dysplasia.Acromelic dysplasia caused by FBN1 mutation includes acromicric dysplasia(AD), geleophysic dysplasia(GD)and Weill-Marchesani syndrome(WMS). As some FBN1 mutations have been reported to cause both AD and GD.The dysregulation of TGF-β signal pathway is the underlying mechanism of acromelic dysplasia.Currently, there is no specific treatment, mainly symptomatic treatment, early identification, diagnosis and treatment will improve prognosis of patients.This article will review the pathogenesis, clinical phenotype, treatment and follow-up of acromelic dysplasia caused by FBN1 mutation.
