Analysis of gene variation and clinical characteristics of Wiedemann-Steiner syndrome.
10.3760/cma.j.cn112140-20210720-00608
- VernacularTitle:Wiedemann-Steiner综合征的基因变异与临床特点分析
- Author:
Ka CHEN
1
;
Yu YANG
2
;
Fi YANG
2
;
Feng XIAO
3
;
Xian WU
2
;
Hui HUANG
1
;
Xiang Yu XIONG
2
;
Qiao SHI
2
;
Xia SHUAI
1
;
Li ZHOU
3
Author Information
1. Department of Central Laboratory,Jiangxi Provincial Children's Hospital,the Affiliated Children's Hospital of Nanchang University, Nanchang 330006, China.
2. Department of Endocrinology and Genetics and Metabolism, Jiangxi Provincial Children's Hospital,the Affiliated Children's Hospital of Nanchang University,Nanchang 330006,China.
3. Department of Child Care,Pingxiang Maternity and Child Care, Pingxiang 337055, China.
- Publication Type:Journal Article
- MeSH:
Abnormalities, Multiple;
Child;
Child, Preschool;
Craniofacial Abnormalities;
Female;
Growth Disorders/genetics*;
Histone-Lysine N-Methyltransferase;
Humans;
Hypertrichosis/genetics*;
Infant;
Intellectual Disability/genetics*;
Male;
Myeloid-Lymphoid Leukemia Protein;
Pregnancy;
Syndrome
- From:
Chinese Journal of Pediatrics
2022;60(2):119-123
- CountryChina
- Language:Chinese
-
Abstract:
Objective: To summarize and analyze the clinical characteristics and gene mutations of 6 patients with Wiedemann-Steiner syndrome (WDSTS). Methods: To review and analyze the clinical data, including general conditions, clinical manifestations, growth hormone, cranial or pituitary gland magnetic resonance imaging (MRI),gene results and other data, 6 cases with WDSTS admitted to the Department of Endocrinology, Genetics and Metabolism of Jiangxi Provincial Children's Hospital and the Department of Child Care of Pingxiang Maternity and Child Care from April 2017 to February 2021 were recruited. Results: Of the 6 patients, 2 were male and 4 were female. The age of the first visit ranged from 1.0 to 11.2 years. All the 6 children presented with growth retardation and mental retardation and they all had typical facial dysmorphism and hypertrichosis (mainly on the back and limbs). Among them, case 5 had a growth hormone deficiency, and case 2 and 4 had abnormalities revealed by cranial MRI. Variations in KMT2A gene were identified in these 6 patients: c.10900+2T>C,c.10837C>T(p.Gln3613*), c.4332G>A(p.E1444E), c.2508dupC(p.W838Lfs*9), c.11695_11696delinsT(p.T3899Sfs*73), c.9915dupA (p.P3306Tfs*22).Among these variations, c.4332G>A, c.11695_11696delinsT and c.9915dupA were novel mutations. Therefore, the final diagnosis of these patients was WDSTS. Conclusions: Patients presented with short stature and mental retardation, typical facial dysmorphism and hypertrichosis should be considered WDSTS. Whole-exome sequencing plays an important role in disease diagnosis and genetic counseling.
