To the Editor:Microcephaly with early‐onset, intractable seizures and developmental delay (MCSZ, OMIM #613402) is a heterogeneous group of autosomal‐recessive disorders. Mutations in polynucleotide kinase 3′‐phosphatase (PNKP) cause MCSZ as well as ataxia‐oculomotor apraxia type 4 (AOA4, OMIM #616267). AOA is a neurodegenerative disorder characterized by cerebellar ataxia, oculomotor apraxia, and extrapyramidal features. Although PNKP mutations cause both MCSZ and AOA, the phenotypes are independent. Here we report two MCSZ patients who also showed AOA4 symptoms, and who were found to have mutations within the kinase domain of PNKP.All procedures were approved by the Review Board of Kobe University, and performed in accordance with the ethical standards of the Declaration of Helsinki, and performed after obtaining informed consent.Patient 1 was a 38 year old female, born to consanguineous parents (Figure A). Her head circumference (HC) at birth was unavailable, but current HC was at −7.8 SD and height at −3.8 SD. She underwent surgical repair for esophageal atresia at 8 days old. She showed severe psychomotor developmental delay, clubfeet, and epilepsy from 1 year old. She manifested severe hypoalbuminemia as a teenager, and diffuse systemic edema thereafter. Brain magnetic resonance imaging (MRI) at 31 years displayed spinocerebellar degeneration (Figure B). Bilateral
Clinical Genetics – Wiley
Published: Jan 1, 2018
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