Ontology highlight
ABSTRACT:
SUBMITTER: Cristofoli F
PROVIDER: S-EPMC5701267 | biostudies-literature | 2017 Nov
REPOSITORIES: biostudies-literature
Cristofoli Francesca F De Keersmaecker Bart B De Catte Luc L Vermeesch Joris R JR Van Esch Hilde H
Molecular syndromology 20170927 6
STIL (SCL/TAL1 interrupting locus) is a core component of the centriole duplication process. <i>STIL</i> mutations have been associated with both autosomal recessive primary microcephaly (MCPH) and holoprosencephaly. In this report, we describe a family with multiple miscarriages and 2 terminations of pregnancy due to marked fetal microcephaly, delayed cortical gyrification, and dysgenesis of the corpus callosum. Whole exome sequencing allowed us to identify novel compound heterozygous mutations ...[more]