guest ::
| Home > Publications Database > GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia. > print |
| Home > Publications Database > GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia. > print |
| 001 | 140192 | ||
| 005 | 20250417141437.0 | ||
| 024 | 7 | _ | |a 10.1111/cge.13390 |2 doi |
| 024 | 7 | _ | |a pmid:29882329 |2 pmid |
| 024 | 7 | _ | |a 0009-9163 |2 ISSN |
| 024 | 7 | _ | |a 1399-0004 |2 ISSN |
| 024 | 7 | _ | |a altmetric:43492705 |2 altmetric |
| 037 | _ | _ | |a DZNE-2020-06514 |
| 041 | _ | _ | |a English |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Hengel, H. |0 P:(DE-2719)2811940 |b 0 |e First author |u dzne |
| 245 | _ | _ | |a GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia. |
| 260 | _ | _ | |a Malden, Mass. |c 2018 |b Wiley |
| 264 | _ | 1 | |3 online |2 Crossref |b Wiley |c 2018-07-10 |
| 264 | _ | 1 | |3 print |2 Crossref |b Wiley |c 2018-10-01 |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1744891991_15325 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 520 | _ | _ | |a Various genetic defects can cause intellectual and developmental disabilities (IDDs). Often IDD is a symptom of a more complex neurodevelopmental or neurodegenerative syndrome. Identifying syndromic patterns is substantive for diagnostics and for understanding the pathomechanism of a disease. Recessive glutamate pyruvate transaminase (GPT2) mutations have recently been associated with IDD in 4 families. Here, we report a novel recessive GPT2 stop mutation p.Gln24* causing a complex IDD phenotype in a homozygous state in 5 patients from 2 consanguineous Arab families. By compiling clinical information of these individuals and previously described GPT2 patients a recognizable neurodevelopmental and potentially neurodegenerative phenotype can be assigned consisting of intellectual disability, pyramidal tract affection with spastic paraplegia, microcephaly and frequently epilepsy. Because of the consistent presence of pyramidal tract affection in GPT2 patients, we further suggest that GPT2 mutations should be considered in cases with complex hereditary spastic paraplegia. |
| 536 | _ | _ | |a 345 - Population Studies and Genetics (POF3-345) |0 G:(DE-HGF)POF3-345 |c POF3-345 |f POF III |x 0 |
| 542 | _ | _ | |i 2018-07-10 |2 Crossref |u http://doi.wiley.com/10.1002/tdm_license_1.1 |
| 542 | _ | _ | |i 2018-07-10 |2 Crossref |u http://onlinelibrary.wiley.com/termsAndConditions#vor |
| 588 | _ | _ | |a Dataset connected to CrossRef, PubMed, |
| 650 | _ | 7 | |a GPT2 protein, human |0 EC 2.6.1.- |2 NLM Chemicals |
| 650 | _ | 7 | |a Transaminases |0 EC 2.6.1.- |2 NLM Chemicals |
| 650 | _ | 2 | |a Adolescent |2 MeSH |
| 650 | _ | 2 | |a Adult |2 MeSH |
| 650 | _ | 2 | |a Brain Diseases: genetics |2 MeSH |
| 650 | _ | 2 | |a Child |2 MeSH |
| 650 | _ | 2 | |a Consanguinity |2 MeSH |
| 650 | _ | 2 | |a Female |2 MeSH |
| 650 | _ | 2 | |a Humans |2 MeSH |
| 650 | _ | 2 | |a Male |2 MeSH |
| 650 | _ | 2 | |a Mutation |2 MeSH |
| 650 | _ | 2 | |a Pedigree |2 MeSH |
| 650 | _ | 2 | |a Spastic Paraplegia, Hereditary: genetics |2 MeSH |
| 650 | _ | 2 | |a Transaminases: genetics |2 MeSH |
| 700 | 1 | _ | |a Keimer, R. |b 1 |
| 700 | 1 | _ | |a Deigendesch, W. |b 2 |
| 700 | 1 | _ | |a Rieß, A. |b 3 |
| 700 | 1 | _ | |a Marzouqa, H. |b 4 |
| 700 | 1 | _ | |a Zaidan, J. |b 5 |
| 700 | 1 | _ | |a Bauer, P. |0 P:(DE-HGF)0 |b 6 |
| 700 | 1 | _ | |a Schöls, L. |0 P:(DE-2719)2810795 |b 7 |e Last author |u dzne |
| 773 | 1 | 8 | |a 10.1111/cge.13390 |b : Wiley, 2018-07-10 |n 3-4 |p 356-361 |3 journal-article |2 Crossref |t Clinical Genetics |v 94 |y 2018 |x 0009-9163 |
| 773 | _ | _ | |a 10.1111/cge.13390 |g Vol. 94, no. 3-4, p. 356 - 361 |0 PERI:(DE-600)2004581-5 |n 3-4 |q 94:3-4<356 - 361 |p 356-361 |t Clinical genetics |v 94 |y 2018 |x 0009-9163 |
| 856 | 4 | _ | |u https://pub.dzne.de/record/140192/files/DZNE-2020-06514_Restricted.pdf |
| 856 | 4 | _ | |u https://pub.dzne.de/record/140192/files/DZNE-2020-06514_Restricted.pdf?subformat=pdfa |x pdfa |
| 909 | C | O | |p VDB |o oai:pub.dzne.de:140192 |
| 910 | 1 | _ | |a Deutsches Zentrum für Neurodegenerative Erkrankungen |0 I:(DE-588)1065079516 |k DZNE |b 0 |6 P:(DE-2719)2811940 |
| 910 | 1 | _ | |a Deutsches Zentrum für Neurodegenerative Erkrankungen |0 I:(DE-588)1065079516 |k DZNE |b 7 |6 P:(DE-2719)2810795 |
| 913 | 1 | _ | |a DE-HGF |b Gesundheit |l Erkrankungen des Nervensystems |1 G:(DE-HGF)POF3-340 |0 G:(DE-HGF)POF3-345 |3 G:(DE-HGF)POF3 |2 G:(DE-HGF)POF3-300 |4 G:(DE-HGF)POF |v Population Studies and Genetics |x 0 |
| 914 | 1 | _ | |y 2018 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0200 |2 StatID |b SCOPUS |d 2022-11-22 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0300 |2 StatID |b Medline |d 2022-11-22 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0199 |2 StatID |b Clarivate Analytics Master Journal List |d 2022-11-22 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0150 |2 StatID |b Web of Science Core Collection |d 2022-11-22 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1050 |2 StatID |b BIOSIS Previews |d 2022-11-22 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1110 |2 StatID |b Current Contents - Clinical Medicine |d 2022-11-22 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1030 |2 StatID |b Current Contents - Life Sciences |d 2022-11-22 |
| 915 | _ | _ | |a JCR |0 StatID:(DE-HGF)0100 |2 StatID |b CLIN GENET : 2021 |d 2022-11-22 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0600 |2 StatID |b Ebsco Academic Search |d 2022-11-22 |
| 915 | _ | _ | |a Peer Review |0 StatID:(DE-HGF)0030 |2 StatID |b ASC |d 2022-11-22 |
| 915 | _ | _ | |a IF < 5 |0 StatID:(DE-HGF)9900 |2 StatID |d 2022-11-22 |
| 920 | 1 | _ | |0 I:(DE-2719)1210000 |k AG Gasser |l Parkinson Genetics |x 0 |
| 920 | 1 | _ | |0 I:(DE-2719)5000005 |k AG Schöls |l Clinical Neurogenetics |x 1 |
| 980 | _ | _ | |a journal |
| 980 | _ | _ | |a VDB |
| 980 | _ | _ | |a I:(DE-2719)1210000 |
| 980 | _ | _ | |a I:(DE-2719)5000005 |
| 980 | _ | _ | |a UNRESTRICTED |
| 999 | C | 5 | |9 -- missing cx lookup -- |a 10.1007/s10545-015-9824-x |2 Crossref |o 10.1007/s10545-015-9824-x |
| 999 | C | 5 | |9 -- missing cx lookup -- |a 10.1007/8904_2016_40 |2 Crossref |o 10.1007/8904_2016_40 |
| 999 | C | 5 | |9 -- missing cx lookup -- |a 10.1073/pnas.1609221113 |2 Crossref |o 10.1073/pnas.1609221113 |
| 999 | C | 5 | |9 -- missing cx lookup -- |a 10.1002/ajmg.a.38558 |2 Crossref |o 10.1002/ajmg.a.38558 |
| 999 | C | 5 | |y 2013 |2 Crossref |o Li 2013 |
| 999 | C | 5 | |9 -- missing cx lookup -- |a 10.1038/nature19057 |2 Crossref |o 10.1038/nature19057 |
| 999 | C | 5 | |9 -- missing cx lookup -- |a 10.1038/ng.3592 |2 Crossref |o 10.1038/ng.3592 |
| 999 | C | 5 | |9 -- missing cx lookup -- |a 10.1056/NEJMoa1516767 |2 Crossref |o 10.1056/NEJMoa1516767 |
| 999 | C | 5 | |9 -- missing cx lookup -- |a 10.3892/ijmm_00000173 |2 Crossref |o 10.3892/ijmm_00000173 |
| 999 | C | 5 | |9 -- missing cx lookup -- |a 10.1007/s10048-012-0314-0 |2 Crossref |o 10.1007/s10048-012-0314-0 |
| 999 | C | 5 | |9 -- missing cx lookup -- |a 10.1136/jmg.2010.082263 |2 Crossref |o 10.1136/jmg.2010.082263 |
| 999 | C | 5 | |9 -- missing cx lookup -- |a 10.1016/j.ajhg.2009.06.004 |2 Crossref |o 10.1016/j.ajhg.2009.06.004 |
| 999 | C | 5 | |9 -- missing cx lookup -- |a 10.1016/j.ajhg.2011.04.019 |2 Crossref |o 10.1016/j.ajhg.2011.04.019 |
| Library | Collection | CLSMajor | CLSMinor | Language | Author |
|---|