Clinical phenotype and genetic analysis of MED13L syndrome.
- Author:
Qing-Jie MENG
1
;
Xue-Lian HE
;
Han XIAO
;
Qian XIA
;
Bo BI
;
Yun XIANG
Author Information
1. Clinical Laboratory, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China. xiangyun5272008@163.com.
- Publication Type:Case Reports
- MeSH:
Child, Preschool;
Chromosome Deletion;
DNA Copy Number Variations;
Humans;
Intellectual Disability;
genetics;
Male;
Mediator Complex;
genetics;
Phenotype;
Polymorphism, Single Nucleotide;
Syndrome
- From:
Chinese Journal of Contemporary Pediatrics
2017;19(10):1083-1086
- CountryChina
- Language:Chinese
-
Abstract:
A boy aged 4 years and 2 months was found to have delayed language and motor development, instability of gait, poor eye contact, stereotyped behavior, and seizure at the age of 3 years. Physical examination showed special facial features, including plagiocephaly, blepharoptosis, wide nasal bridge, down-turned mouth corners at both sides, and low-set ears. There were only two knuckles at the little finger of the left hand. The anteroposterior and lateral films of the spine showed scoliosis; echocardiography showed ventricular septal defect; the Gesell Developmental Scale showed delayed language development and moderate intellectual disability; there were no abnormalities in the karyotype; genome-wide SNP arrays found a duplication in 12q24.21 region with a size of 1.03 Mb in chromosome 12, while this was not seen in his parents. The boy was diagnosed with MED13L syndrome. Point mutation, deletion, and duplication in the MED13L gene can lead to MED13L syndrome. The patients with different genotypes may have different phenotypes. Genome-wide SNP arrays may help with the diagnosis of this disease.
