Analysis of a case with heterozygous 14q12 deletion and FOXG1 gene-related disease.
10.3760/cma.j.cn511374-20200307-00142
- VernacularTitle:一例14q12区杂合缺失及
FOXG1基因相关疾病的分析
- Author:
Shufang LI
1
;
Gege SUN
;
Ganye ZHAO
;
Xiangdong KONG
Author Information
1. Center of Genetics and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@263.net.
- Publication Type:Journal Article
- MeSH:
Child;
Chromosome Deletion;
DNA Copy Number Variations;
Forkhead Transcription Factors/genetics*;
Heterozygote;
Humans;
Infant;
Karyotyping;
Male;
Nerve Tissue Proteins/genetics*;
Polymorphism, Single Nucleotide
- From:
Chinese Journal of Medical Genetics
2021;38(4):366-368
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To describe the clinical and genetic characteristics of a child with 14q12q13.1 deletion involving the FOXG1 gene.
METHODS:Clinical manifestation of the child was analyzed. Peripheral blood sample of the patient was subjected to chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) analysis.
RESULTS:The male infant has developed feeding difficulty, poor sucking, lower limb tremor, and frontal bruising 8 days after birth. Magnetic resonance imaging revealed significant enlargement of bilateral ventricles and corpus callosum dysplasia. Chromosomal analysis revealed a karyotype of 46,XY,del(14)(q12q13.1), and SNP-array confirmed that there was a 9.6 Mb deletion in 14q11.2q13.1, which encompassed the FOXG1 gene.
CONCLUSION:For patients with brain development abnormalities, dyskinesia, cognitive impairment, speech disorder and other manifestations, copy number variation of the FOXG1 gene should be excluded. SNP-array should be carried out as early as possible to attain the diagnosis.
