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  Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration

Iqbal, Z., Püttmann, L., Musante, L., Razzaq, A., Zahoor, M. Y., Hu, H., et al. (2016). Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration. European journal of human genetics, 24(3), 392-399. doi:10.1038/ejhg.2015.148.

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 Urheber:
Iqbal, Z., Autor
Püttmann, L.1, Autor
Musante, L.1, Autor           
Razzaq, A., Autor
Zahoor, M. Y., Autor
Hu, H.1, Autor
Wienker, T. F.2, Autor           
Garshasbi, M.1, Autor
Fattahi, Z., Autor
Gilissen, C., Autor
Vissers, L. E., Autor
de Brouwer, A. P., Autor
Veltman, J. A., Autor
Pfundt, R., Autor
Najmabadi, H., Autor
Ropers, H. H.1, Autor           
Riazuddin, S., Autor
Kahrizi, K., Autor
van Bokhoven, H., Autor
Affiliations:
1Emeritus Group of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385695              
2Clinical Genetics (Thomas F. Wienker), Emeritus Group of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385696              

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Schlagwörter: Adult Amino Acid Sequence Child Computer Simulation Cytokines/chemistry/*genetics Exome/genetics Family Female *Genes, Recessive Haplotypes/genetics High-Throughput Nucleotide Sequencing Homozygote Humans Intellectual Disability/*complications/*genetics Male Molecular Sequence Data Mutation Mutation, Missense/*genetics Neoplasm Proteins/chemistry/*genetics Nerve Degeneration/*complications/*genetics Pedigree Protein Structure, Secondary RNA-Binding Proteins/chemistry/*genetics Reproducibility of Results Young Adult
 Zusammenfassung: AIMP1/p43 is a multifunctional non-catalytic component of the multisynthetase complex. The complex consists of nine catalytic and three non-catalytic proteins, which catalyze the ligation of amino acids to their cognate tRNA isoacceptors for use in protein translation. To date, two allelic variants in the AIMP1 gene have been reported as the underlying cause of autosomal recessive primary neurodegenerative disorder. Here, we present two consanguineous families from Pakistan and Iran, presenting with moderate to severe intellectual disability, global developmental delay, and speech impairment without neurodegeneration. By the combination of homozygosity mapping and next generation sequencing, we identified two homozygous missense variants, p.(Gly299Arg) and p.(Val176Gly), in the gene AIMP1 that co-segregated with the phenotype in the respective families. Molecular modeling of the variants revealed deleterious effects on the protein structure that are predicted to result in reduced AIMP1 function. Our findings indicate that the clinical spectrum for AIMP1 defects is broader than witnessed so far.

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Sprache(n): eng - English
 Datum: 2015-07-152016-03
 Publikationsstatus: Erschienen
 Seiten: 8
 Ort, Verlag, Ausgabe: -
 Inhaltsverzeichnis: -
 Art der Begutachtung: -
 Identifikatoren: DOI: 10.1038/ejhg.2015.148
ISSN: 1476-5438 (Electronic)1018-4813 (Print)
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Titel: European journal of human genetics
  Andere : Eur. J. Hum. Genet.
Genre der Quelle: Zeitschrift
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Ort, Verlag, Ausgabe: Nature Publishing Group
Seiten: - Band / Heft: 24 (3) Artikelnummer: - Start- / Endseite: 392 - 399 Identifikator: ISSN: 1018-4813
CoNE: https://pure.mpg.de/cone/journals/resource/954925585277_1