Clinical Research and Practice
Analysis of gene variation and clinical characteristics of Wiedemann-Steiner syndrome
Chen Ka, Yang Yu, Yang Li, Xiao Feng, Wu Xian, Huang Hui, Xiong Xiangyu, Shi Qiao, Shuai Xia, Zhou Li
Published 2022-02-02
Cite as Chin J Pediatr, 2022, 60(2): 119-123. DOI: 10.3760/cma.j.cn112140-20210720-00608
Abstract
ObjectiveTo summarize and analyze the clinical characteristics and gene mutations of 6 patients with Wiedemann-Steiner syndrome (WDSTS).
MethodsTo 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.
ResultsOf 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.
ConclusionsPatients 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.
Key words:
Genetic variation; Hypertrichosis; Developmental disabilities
Contributor Information
Chen Ka
Department of Central Laboratory,Jiangxi Provincial Children′s Hospital,the Affiliated Children′s Hospital of Nanchang University, Nanchang 330006, China
Yang Yu
Department of Endocrinology and Genetics and Metabolism, Jiangxi Provincial Children′s Hospital,the Affiliated Children′s Hospital of Nanchang University,Nanchang 330006,China
Yang Li
Department of Endocrinology and Genetics and Metabolism, Jiangxi Provincial Children′s Hospital,the Affiliated Children′s Hospital of Nanchang University,Nanchang 330006,China
Xiao Feng
Department of Child Care,Pingxiang Maternity and Child Care, Pingxiang 337055, China
Wu Xian
Department of Endocrinology and Genetics and Metabolism, Jiangxi Provincial Children′s Hospital,the Affiliated Children′s Hospital of Nanchang University,Nanchang 330006,China
Huang Hui
Department of Central Laboratory,Jiangxi Provincial Children′s Hospital,the Affiliated Children′s Hospital of Nanchang University, Nanchang 330006, China
Xiong Xiangyu
Department of Endocrinology and Genetics and Metabolism, Jiangxi Provincial Children′s Hospital,the Affiliated Children′s Hospital of Nanchang University,Nanchang 330006,China
Shi Qiao
Department of Endocrinology and Genetics and Metabolism, Jiangxi Provincial Children′s Hospital,the Affiliated Children′s Hospital of Nanchang University,Nanchang 330006,China
Shuai Xia
Department of Central Laboratory,Jiangxi Provincial Children′s Hospital,the Affiliated Children′s Hospital of Nanchang University, Nanchang 330006, China
Zhou Li
Department of Child Care,Pingxiang Maternity and Child Care, Pingxiang 337055, China
