Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing

► Linkage analysis and whole exome sequencing identified a mutation in the AIFM1 gene. ► The report of a mutation in the AIFM1 gene, extending the clinical spectrum. ► AIFM1 mutation with fetal ventriculomegaly underscores complex I assembly importance. ► Linkage analysis followed by exome sequencing is a cost-effective approach. ► Especially for identification of mutations in small non-consanguineous families.