A Unique Phenotype of 2q24.3-2q32.1 Duplication: Early Infantile Epileptic Encephalopathy Without Mesomelic Dysplasia

作者：Lim Byung Chan; Min Byung Joo; Park Woong Yang; Oh Sun Kyung; Woo Mi Jung; Choi Jin Sun; Kim Ki Joong; Hwang Yong Seung; Chae Jong Hee^*

来源：Journal of Child Neurology, 2014, 29(2): 260-264.

DOI：10.1177/0883073813478659

• 2q duplication
• comparative genomic hybridization array
• mesomelic dysplasia
• epilepsy
• hypoplastic left heart syndrome
• sodium channel
• HOXD

The voltage-gated sodium channel genes and HOXD genes are clustered on chromosome 2q, and duplication of this region is associated with 2 clinical phenotypes: early-onset epilepsy and mesomelic dysplasia Kantaputra type, respectively. We report a case involving 2q24.3-2q32.1 duplication encompassing both the voltage-gated sodium channel and HOXD gene clusters, which were detected by a comparative genomic hybridization array. The associated clinical features were early-infantile-onset epilepsy, hypoplastic left heart syndrome, and global developmental delay. However, no features of mesomelic dysplasia were found. A fluorescent in situ hybridization study showed that the noncontiguous insertion of the duplicated chromosome 2q segment into chromosome 6q was inherited from the father, who has a balanced insertional translocation. The unique genotype-phenotype correlation in the present case suggests that dosage-sensitive effects might apply only to the voltage-gated sodium channel genes.

• 出版日期2014-2