Genomic and phenotypic delineation of congenital microcephaly.

ABSTRACT:

Purpose

Congenital microcephaly (CM) is an important birth defect with long term neurological sequelae. We aimed to perform detailed phenotypic and genomic analysis of patients with Mendelian forms of CM.

Methods

Clinical phenotyping, targeted or exome sequencing, and autozygome analysis.

Results

We describe 150 patients (104 families) with 56 Mendelian forms of CM. Our data show little overlap with the genetic causes of postnatal microcephaly. We also show that a broad definition of primary microcephaly -as an autosomal recessive form of nonsyndromic CM with severe postnatal deceleration of occipitofrontal circumference-is highly sensitive but has a limited specificity. In addition, we expand the overlap between primary microcephaly and microcephalic primordial dwarf

SUBMITTER: Shaheen R 

PROVIDER: S-EPMC6986385 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature