Case report: prenatal recurrent microcephaly and corpus callosum abnormalities in a Chinese family with novel biallelic SASS6 mutations

Conclusion: We reported novel biallelic variants in the SASS6 gene, encoding the SAS6 centriolar assembly protein, associated with prenatal onset of autosomal recessive microcephaly. We postulate that the pathomechanism of the compound heterozygous variants in close proximity could potentiate the overall coiled instability leading to the phenotypic features of our case.
Source: Fetal Diagnosis and Therapy - Category: Perinatology & Neonatology Source Type: research