Autosomal recessive microcephaly, infantile-onset seizures, and developmental delay (MCSZ) is a relatively more severe disorder than autosomal recessive primary microcephaly. Mental retardation is usually severe to profound with variable behavioral problems and seizures are severe and intractable. Mutations in the PNKP gene have been described in seven families with MCSZ. Both homozygous, consanguineous patients and compound heterozygotes were reported. We offer mutation analysis of all 16 coding exons and intron/exon boundaries of PNKP by direct sequencing of amplification products in both the forward and reverse directions.
Specimen Types Accepted