Novel SASS6 compound heterozygous mutations in a Chinese family with primary autosomal recessive microcephaly

Publication date: Available online 10 January 2019Source: Clinica Chimica ActaAuthor(s): Yanghui Zhang, Haoxian Li, Jialun Pang, Ying Peng, Li Shu, Hua WangAbstractPrimary autosomal recessive microcephaly (MCPH) is a rare hereditary disease characterized by congenitally small with brain circumference of the head below 3 standard deviations (SD). By far, 18 MCPH genes have been reported to be associated with the disease. SASS6 gene functioned in assembly of centrioles that the majority of MCPH genes present at the centrosome. There was only research reporting a homozygous missense mutation in SASS6 gene detected in a consanguineous Pakistani family. By conducting Whole-exome sequencing (WES) and Sanger sequencing on the family trio, we identified two novel splice site mutations c.127-13A>G and c.1867+2T>A in compound heterozygous hereditary form in the SASS6 gene. The two mutations were confirmed to alter mRNA splicing by RT-PCR assay. Our finding supported the role of SASS6 in the pathogenesis of microcephaly, expanding mutation spectrums and contributing to understanding of molecular mechanisms of MCPH.

Source: Clinica Chimica Acta - January 11, 2019 Category: Laboratory Medicine Source Type: research