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

ABSTRACT:

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 literatur

SUBMITTER: Tan L 

PROVIDER: S-EPMC5709987 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature