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Background  Microcephaly 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 presentation  Single 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.    Conclusion  This 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.

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