Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disability.

ABSTRACT:

Background

Minichromosomal maintenance (MCM) complex components 2, 4, 5 and 6 have been linked to human disease with phenotypes including microcephaly and intellectual disability. The MCM complex has DNA helicase activity and is thereby important for the initiation and elongation of the replication fork and highly expressed in proliferating neural stem cells.

Methods

Whole-exome sequencing was applied to identify the genetic cause underlying the neurodevelopmental disease of the index family. The expression pattern of Mcm7 was characterised by performing quantitative real-time PCR, in situ hybridisation and immunostaining. To prove the disease-causative nature of identified MCM7, a proof-of-principle experiment was performed.

Results

We reported t

SUBMITTER: Ravindran E 

PROVIDER: S-EPMC9046757 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature