Rare compound heterozygous variants in PNKP identified by whole exome sequencing in a German patient with ataxia-oculomotor apraxia 4 and pilocytic astrocytoma-Reference-Cited by-同舟云学术

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Rare compound heterozygous variants in PNKP identified by whole exome sequencing in a German patient with ataxia-oculomotor apraxia 4 and pilocytic astrocytoma

Published:2018-03-02 Issue:1 Volume:94 Page:185-186
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Scholz C.¹,Golas M.M.¹,Weber R.G.¹,Hartmann C.²³,Lehmann U.³,Sahm F.⁴⁵,Schmidt G.¹,Auber B.¹,Sturm M.⁶,Schlegelberger B.¹,Illig T.¹,Steinemann D.¹,Hofmann W.¹^ORCID

Affiliation:

1. Department of Human Genetics; Hannover Medical School; Hanover Germany

2. Department of Neuropathology; Hannover Medical School; Hanover Germany

3. Institute of Pathology; Hannover Medical School; Hanover Germany

4. Department of Neuropathology, Institute of Pathology; University of Heidelberg; Heidelberg Germany

5. CCU Neuropathology, German Consortium for Translational Cancer Research, German Cancer Research Center; Heidelberg Germany

6. Institute of Medical Genetics and Applied Genomics; University of Tübingen; Tübingen Germany

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13216/fullpdf

Reference5 articles.

1. Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4;Bras;Am J Hum Genet,2015

2. Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma;DTW;Nat Genet,2013

3. The molecular architecture of the mammalian DNA repair enzyme, polynucleotide kinase;Bernstein;Mol Cell,2005

4. Molecular cloning of the human gene, PNKP, encoding a polynucleotide kinase 3′-phosphatase and evidence for its role in repair of DNA strand breaks caused by oxidative damage;Jilani;J Biol Chem,1999

5. Expanding the ataxia with oculomotor apraxia type 4 phenotype;Paucar;Neurol Genet,2016

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1. Mutations of the DNA repair gene PNKP in a patient with microcephaly, seizures, and developmental delay (MCSZ) presenting with a high-grade brain tumor;Scientific Reports;2022-03-30

2. HLA ‐ matched related donor hematopoietic stem cell transplantation in a patient with polynucleotide kinase 3–phosphatase mutation developed acute myeloid leukemia;Pediatric Transplantation;2022-02-21

3. Autosomal recessive adult onset ataxia;Journal of Neurology;2021-09-09

4. Episodic psychosis, ataxia, motor neuropathy with pyramidal signs (PAMP syndrome) caused by a novel mutation in ADPRHL2 (AHR3);Neurological Sciences;2021-02-02

5. The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort;Pediatric Neurology;2020-12

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