Seckel syndrome (OMIM#210600) and Microcephalic Osteodysplastic Primordial Dwarfistm type II (MOPDII, OMIM#210720) belong to the microcephalic osteodysplastic dwarfism group characterized by intrauterine growth retardation, dwarfism, and microcephaly. Mutations in PCNT (pericentrin; OMIM#605925) have been identified in patients with Seckel/MOPDII. Rauch et al. (2008) identified 29 different homozygous or compound heterozygous mutations in the PCNT gene in 25 patients with MOPDII. Williams et al (2010) identified 12 homozygous and 1 heterozygous mutation in the PCNT gene in 8/8 patients with MOPDII and 5/16 patients diagnosed with Seckel syndrome We offer full gene sequencing for all 47 coding exons and the intron/exon boundaries of PCNT by direct sequencing of amplification products in both the forward and reverse directions. PCNT sequencing is also available as part of our Seckel Syndrome Sequencing Panel or our Comprehensive Primordial Dwarfism Panel. Please see our information sheet for more details.
Specimen Types Accepted