Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review

BMC Medical Genetics

Case Report

Peiwei Zhao¹  Xiaonan Cai¹  Xuelian He¹  Chunhui Wan¹  Li Tan¹  Jianbo Shao²  Bo Bi³ 

[1] Clinical Research Center, Wuhan Children’s Hospital, Tongji Medical College, Huazhong University of Science & Technology, 430016, Wuhan, China;Department of CT/MRI Center, Wuhan Children’s Hospital, Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China;Department of Rehabilitation, Wuhan Children’s Hospital, Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China;

关键词: Microcephaly;    NDE1;    16p13.11 microdeletion;    Agenesis of corpus callosum;   

DOI  :  10.1186/s12881-017-0501-9

 received in 2017-07-17, accepted in 2017-11-14,  发布年份 2017

来源: Springer

【 摘 要 】

BackgroundMicrocephaly is a disorder characterized by severe impairment in brain development, reduced brain and head size. Congenital severe microcephaly is very rare, and NDE1 deletion and genetic mutations are important contributors.Case presentationSingle nucleotide polymorphism (SNP) chromosomal microarray analysis (CMA) and muation screening of NDE1 gene were performed in an 8-month patient with severe congenital microcephaly, and/or his parents. Genetic studies found a 16p13.11 deletion containing NDE1 gene, and a novel NDE1 mutation c.555_556GC > CT on the non-deleted homolog, inherited from his phenotypically normal parents, respectively. The 2 bp nucleotide change results in a missense mutation p.K185 N and a nonsense mutation p.Q186X. We also conducted literaturte review to compare the clinical phenotypes of our patient to those of cases previously reported with NDE1 mutations, and found all patients had mental retardation, severe microcephaly, and corpus callosum agenesis.ConclusionThis is the first Chinese reported with microcephaly caused by NDE1 mutations. NDE1 is a critical pathogenetic gene in severe congenital microcephaly. Sequencing NDE1 and CMA in patients with severe congenital microcephaly may be warranted.

【 授权许可】

CC BY   
© The Author(s). 2017