Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.

ABSTRACT:

Objective

To identify the genetic basis of a recessive syndrome characterized by prenatal hyperechogenic brain foci, congenital microcephaly, hypothalamic midbrain dysplasia, epilepsy, and profound global developmental disability.

Methods

Identification of the responsible gene by whole exome sequencing and homozygosity mapping.

Results

Ten patients from 4 consanguineous Palestinian families manifested in utero with hyperechogenic brain foci, microcephaly, and intrauterine growth retardation. Postnatally, patients had progressive severe microcephaly, neonatal seizures, and virtually no developmental milestones. Brain imaging revealed dysplastic elongated masses in the midbrain-hypothalamus-optic tract area. Whole exome sequencing of one affected child revealed only PCD

SUBMITTER: Aran A 

PROVIDER: S-EPMC4887125 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature