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 Deletions/duplications in PCNT have been reported as causative of microcephalic osteodysplastic primordial dwarfism. PCNT deletion/duplication analysis can be ordered as an individual test, or as part of the following panels: Seckel Syndrome Deletion/Duplication Panel, Comprehensive Primordial Dwarfism Deletion/Duplication Panel. Please see our information sheet for more details.
Specimen Types Accepted
If sending saliva, 2 kits are required.