DCX variants in two unrelated Chinese families with subcortical band heterotopia: Two case reports and review of literature
Chunlai Gao,
Ning Liu,
Jian Ma,
Jianshe Zhao,
Bing Zhao,
Fengling Song,
Rui Dong,
Zilong Li,
Yuqiang Lv,
Yi Liu,
Zhongtao Gai
Affiliations
Chunlai Gao
Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Jinan Children's Hospital, Jinan, Shandong 250022, China
Ning Liu
Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Jinan Children's Hospital, Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan, Shandong 250022, China
Jian Ma
Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Jinan Children's Hospital, Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan, Shandong 250022, China
Jianshe Zhao
Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Jinan Children's Hospital, Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan, Shandong 250022, China
Bing Zhao
Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Jinan Children's Hospital, Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan, Shandong 250022, China
Fengling Song
Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Jinan Children's Hospital, Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan, Shandong 250022, China
Rui Dong
Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Jinan Children's Hospital, Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan, Shandong 250022, China
Zilong Li
Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Jinan Children's Hospital, Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan, Shandong 250022, China
Yuqiang Lv
Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Jinan Children's Hospital, Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan, Shandong 250022, China
Yi Liu
Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Jinan Children's Hospital, Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan, Shandong 250022, China; Corresponding author. Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China.
Zhongtao Gai
Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Jinan Children's Hospital, Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan, Shandong 250022, China; Corresponding author. Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China.
Introduction: Subcortical band heterotopia (SBH) is a rare brain developmental malformation caused by deficient neuronal migration during embryogenesis. Published literature on pediatric SBH cases caused by DCX mutations is limited. Methods: The detailed clinical and genetic features of two pediatric SBH with DCX mutations were analyzed. The available literature on DCX mutations was reviewed. Results: Both patients were girls with varying degrees of developmental delay. Patient 1 was short in stature with peculiar facial features. Patient 2 had an early seizure onset and developed drug-resistant epilepsy. Whole-exome sequencing (WES) revealed two de novo heterozygous variants of DCX (NM_178153.3), including a novel missense variant of c.568A > G (p.K190E) in P1 and a reported nonsense variant of c.814C > T (p.R272*) in P2. We reviewed all the available literature regarding DCX mutations. A total of 153 different mutations have been reported, with the majority of 99 (64.7 %) being missense mutations. Conclusion: Our study expanded the mutational spectrum of DCX, which has important implications for the study of genotype-phenotype correlations. Furthermore, it provided insights to better understand SBH and genetic counseling.