Frontometaphyseal dysplasia 1 caused by variant of FLNA gene in a case.
10.3760/cma.j.cn511374-20200523-00374
- Author:
Qingyan YE
1
;
Jun ZHAO
;
Guoying CHANG
;
Yirou WANG
;
Yu DING
;
Juan LI
;
Qun LI
;
Yao CHEN
;
Jian WANG
;
Xiumin WANG
Author Information
1. Shanghai Chindren's Medical Center Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200127, China. wangxiumin1019@126.com.
- Publication Type:Journal Article
- MeSH:
Child;
Filamins/genetics*;
Forehead/abnormalities*;
Humans;
Infant;
Male;
Osteochondrodysplasias/genetics*;
Phenotype;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2021;38(4):355-358
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical and genetic characteristics of a child with frontometaphyseal dysplasia 1 (FMD1) due to variant of FLNA gene.
METHODS:Clinical phenotype of the patient was analyzed. Whole exome sequencing (WES) was carried out to detect pathogenic genetic variants. Sanger sequencing was used to verify the result in his parents.
RESULTS:The 2-year-and-9-month-old boy presented with facial dysmorphism (supraorbital hyperostosis, down-slanting palpebral fissure and ocular hypertelorism), skeletal deformities (bowed lower limbs, right genu valgum, left genu varus, slight deformity of index and middle fingers, and flexion contracture of little fingers). He also had limited left elbow movement. High-throughput sequencing revealed that he has carried a de novo heterogeneous c.3527G>A (p.Gly1176Glu) missense variant of the FLNA gene. The same variant was found in neither parent.
CONCLUSION:The clinical manifestations of FMD1 such as joint contracture and bone dysplasia can occur in infancy and deteriorate with age, and require long-term follow-up and treatment. Above finding has expanded the spectrum of FLNA gene variants.
