Microcephaly, seizures and developmental delay caused by two novel mutations in the

Background: Microcephaly, seizures and developmental delay, known as MCSZ, is an uncommon autosomal recessive neurodevelopmental disorder linked to a bifunctional enzyme named polynucleotide-kinase-3'-phosphatase ( Case Description: We describe a patient with small anterior fontanelle and head circumference, refractory epilepsy and global developmental delay. He was a baby conceived via in vitro fertilization (IVF). Microcephaly and oligohydramnios were detected at 32 weeks. At 4 months, the patient had recurrent convulsions without fever, presenting with tonic-clonic seizures. He was treated with four anti-seizure medications (ASMs), but did not achieve satisfactory control. At the age of 5 years old, he had not learned to speak and was unable to stand unaided. The patient harbored two novel mutations, c. 1299-1G>A and c.1283_1287dup (p.S430Pfs*39), in the Conclusions: This is the third report of MCSZ in a non-consanguineous Chinese mainland family. Our results offer additional evidence for clinical variability associated with disorders stemming from mutations in the