Type 2 spondyloepimetaphyseal dysplasia with joint laxity caused by KIF22 gene mutation: a case report and literature review
10.3760/cma.j.cn121113-20220121-00038
- VernacularTitle:KIF22基因突变致脊椎干骺端发育不良伴关节松弛2型一例报告并文献复习
- Author:
Zhen LI
1
;
Yachao LU
;
Ruifang QI
;
Jieying WANG
;
Rongmin LI
;
Jie CHANG
;
Jingna WANG
;
Yanmei SANG
Author Information
1. 保定市儿童医院内分泌科，保定 071000
- From:
Chinese Journal of Orthopaedics
2022;42(21):1460-1464
- CountryChina
- Language:Chinese
-
Abstract:
A male patient aged 1 year and 8 months with type 2 spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL2) was reported. The clinical characteristics included short stature, flat middle face, hypotonia, limb joint relaxation, hyperextension of metacarpophalangeal articulation, etc. In addition, the patient had a history of congenital laryngeal stridor. Thus, SEMDJL2 was determined according to the above symptoms and medical history. Sanger sequencing showed that the child carried a c.443C>T missense mutation in the KIF22 gene, which resulted in an amino acid variation namely p.Pro148Leu. This phenotype was preliminarily determined as a pathogenic mutation. Therefore, it is suggested that next-generation sequencing genetic testing could be helpful for genetic diagnosis in children with congenital laryngeal stridor, systemic joint relaxation, and excessive joint extension.
