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

doi:10.1016/j.heliyon.2023.e22323

DCX variants in two unrelated Chinese families with subcortical band heterotopia: Two case reports and review of literature

Heliyon. 2023 Nov 14;9(11):e22323. doi: 10.1016/j.heliyon.2023.e22323. eCollection 2023 Nov.

Authors

Chunlai Gao^{1

2}, Ning Liu^{1

2

3}, Jian Ma^{1

2

3}, Jianshe Zhao^{1

2

3}, Bing Zhao^{1

2

3}, Fengling Song^{1

2

3}, Rui Dong^{1

2

3}, Zilong Li^{1

2

3}, Yuqiang Lv^{1

2

3}, Yi Liu^{1

2

3}, Zhongtao Gai^{1

2

3}

Affiliations

¹ Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China.
² Jinan Children's Hospital, Jinan, Shandong 250022, China.
³ Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan, Shandong 250022, China.

Abstract

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.

Keywords: DCX gene; Lissencephaly; Mutation; Subcortical band heterotopia; Whole-exome sequencing.

Publication types

Case Reports