Rare Pericentrin (PCNT) gene mutation detected in a patient with microcephalic osteodysplastic primordial dwarfism in Turkey

Background: Microcephalic osteodysplastic primordial dwarfism (MOPD) syndrome is an autosomal recessive syndrome characterized by prenatal and postnatal growth restriction, microcephaly and craniofacial findings such as beak nose, flattened forehead and micrognathia. MOPD type II is the most common form and its clinical features are severe intrauterine growth restriction in prenatal period, short stature in adulthood, microcephaly, mild mental disability, bone dysplasia and tooth development disorders. To date, associated with MOPD, 33 different mutations have been identified. Case report: In this case report, we present a 6-yearold male patient who was diagnosed as MOPD Type II in the light of clinical and radiological findings. We performed the molecular genetic analysis of the patient by next-generation sequencing. Mutation analysis of the PCNT gene (Pericentrin) in the patient revealed a rare mutation in the exon 18 acceptor splice site. After the Sanger confirmation, we observed that the parents were heterozygous for the same mutation. Conclusions: The identification of mutations causing MOPD syndrome is important both for the confirmation of the clinical diagnosis and for help in prenatal diagnosis in our country where consanguineous marriages are common in Turkey.