Background: Primary microcephaly represents an example of clinically and genetically heterogeneous condition. Here we describe a case of primary microcephaly from the Karachay-Cherkess Republic, which was initially diagnosed with Seckel syndrome.
Case presentation: Clinical exome sequencing of the proband revealed a novel homozygous single nucleotide deletion in ASPM gene, c.1386delC, resulting in preterm termination codon. Population screening reveals allele frequency to be less than 0.005. Mutations in this gene were not previously associated with Seckel syndrome.
Conclusions: Our case represents an additional support for the clinical continuum between Seckel Syndrome and primary microcephaly.
Keywords: ASPM; Allelic disorders; Clinical continuum; Clinical heterogeneity; Seckel syndrome.