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
It’s your single place to instantly
discover and read the research
that matters to you.
Enjoy affordable access to
over 12 million articles from more than
10,000 peer-reviewed journals.
All for just $49/month
Read as many articles as you need. Full articles with original layout, charts and figures. Read online, from anywhere.
Keep up with your field with Personalized Recommendations and Follow Journals to get automatic updates.
It’s easy to organize your research with our built-in tools.
Read from thousands of the leading scholarly journals from SpringerNature, Elsevier, Wiley-Blackwell, Oxford University Press and more.
All the latest content is available, no embargo periods.
“Hi guys, I cannot tell you how much I love this resource. Incredible. I really believe you've hit the nail on the head with this site in regards to solving the research-purchase issue.”Daniel C.
“Whoa! It’s like Spotify but for academic articles.”@Phil_Robichaud
“I must say, @deepdyve is a fabulous solution to the independent researcher's problem of #access to #information.”@deepthiw
“My last article couldn't be possible without the platform @deepdyve that makes journal papers cheaper.”@JoseServera