Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.

ABSTRACT:

Purpose

Microcephaly is a sign of many genetic conditions but has been rarely systematically evaluated. We therefore comprehensively studied the clinical and genetic landscape of an unselected cohort of patients with microcephaly.

Methods

We performed clinical assessment, high-resolution chromosomal microarray analysis, exome sequencing, and functional studies in 62 patients (58% with primary microcephaly [PM], 27% with secondary microcephaly [SM], and 15% of unknown onset).

Results

We found severity of developmental delay/intellectual disability correlating with severity of microcephaly in PM, but not SM. We detected causative variants in 48.4% of patients and found divergent inheritance and variant pattern for PM (mainly recessive and likely gene-disrupting [LGD]) v

SUBMITTER: Boonsawat P 

PROVIDER: S-EPMC6752480 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature