Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report.

ABSTRACT:

Background

Primary microcephaly is defined as reduced occipital-frontal circumference noticeable before 36 weeks of gestation. Large amount of insults might lead to microcephaly including infections, hypoxia and genetic mutations. More than 16 genes are described in autosomal recessive primary microcephaly. However, the cause of microcephaly remains unclear in many cases after extensive investigations and genetic screening.

Case presentation

Here, we described the case of a boy with primary microcephaly who presented to a neurology clinic with short stature, global development delay, dyskinetic movement, strabismus and dysmorphic features. We performed microcephaly investigations and genetic panels. Then, we performed whole-exome sequencing to identify any genetic cause. Mic

SUBMITTER: Picher-Martel V 

PROVIDER: S-EPMC7023720 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature