A case of Baraitser-Winter cerebrofrontofacial syndrome diagnosed by whole-exome sequencing

Here we report a heterozygous missense variant in the ACTB gene, NM_001101.5:c.209C>T (p.Pro70Leu), detected in a case of a mildly affected infant with Baraitser-Winter cerebrofrontofacial syndrome, characterized by unique craniofacial features, coloboma and mild developmental delay, but without lissencephaly. Baraitser-Winter cerebrofrontofacial syndrome cases with a similar mild phenotype have been reported to have the same variant in different populations, suggesting a genotype-phenotype correlation in this syndrome.