Journal Article

DZNE-2020-06514

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia.

Hengel, H. (First author)DZNE* ; Keimer, R. ; Deigendesch, W. ; Rieß, A. ; Marzouqa, H. ; Zaidan, J. ; Bauer, P. ; Schöls, L. (Last author)DZNE*

2018
Wiley Malden, Mass.

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Please use a persistent id in citations: doi:10.1111/cge.13390

Abstract: 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.

Keyword(s): Adolescent (MeSH) ; Adult (MeSH) ; Brain Diseases: genetics (MeSH) ; Child (MeSH) ; Consanguinity (MeSH) ; Female (MeSH) ; Humans (MeSH) ; Male (MeSH) ; Mutation (MeSH) ; Pedigree (MeSH) ; Spastic Paraplegia, Hereditary: genetics (MeSH) ; Transaminases: genetics (MeSH) ; GPT2 protein, human ; Transaminases

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Contributing Institute(s):

1. Parkinson Genetics (AG Gasser)
2. Clinical Neurogenetics (AG Schöls)

Research Program(s):

1. 345 - Population Studies and Genetics (POF3-345) (POF3-345)

Appears in the scientific report 2018

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Database coverage:
; BIOSIS Previews ; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; Current Contents - Life Sciences ; Ebsco Academic Search ; IF < 5 ; JCR ; SCOPUS ; Web of Science Core Collection

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