Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.

ABSTRACT: Congenital microcephaly causes smaller than average head circumference relative to age, sex and ethnicity and is most usually associated with a variety of neurodevelopmental disorders. The underlying etiology is highly heterogeneous and can be either environmental or genetic. Disruption of any one of multiple biological processes, such as those underlying neurogenesis, cell cycle and division, DNA repair or transcription regulation, can result in microcephaly. This etiological heterogeneity manifests in a clinical variability and presents a major diagnostic and therapeutic challenge, leaving an unacceptably large proportion of over half of microcephaly patients without molecular diagnosis. To elucidate the clinical and genetic landscapes of congenital microcephaly, we sequenced the exomes

SUBMITTER: Dawidziuk M 

PROVIDER: S-EPMC8700965 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature