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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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Item Permalink: http://hdl.handle.net/21.11116/0000-0000-C17A-D Version Permalink: http://hdl.handle.net/21.11116/0000-0000-C17B-C
Genre: Journal Article

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 Creators:
Iqbal, Z., Author
Püttmann, L.1, Author
Musante, L.1, Author              
Razzaq, A., Author
Zahoor, M. Y., Author
Hu, H.1, Author
Wienker, T. F.2, Author              
Garshasbi, M.1, Author
Fattahi, Z., Author
Gilissen, C., Author
Vissers, L. E., Author
de Brouwer, A. P., Author
Veltman, J. A., Author
Pfundt, R., Author
Najmabadi, H., Author
Ropers, H. H.1, Author              
Riazuddin, S., Author
Kahrizi, K., Author
van Bokhoven, H., Author
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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Free keywords: 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
 Abstract: 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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Language(s): eng - English
 Dates: 2015-07-152016-03
 Publication Status: Published in print
 Pages: 8
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: DOI: 10.1038/ejhg.2015.148
ISSN: 1476-5438 (Electronic)1018-4813 (Print)
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Title: European journal of human genetics
  Other : Eur. J. Hum. Genet.
Source Genre: Journal
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Publ. Info: Nature Publishing Group
Pages: - Volume / Issue: 24 (3) Sequence Number: - Start / End Page: 392 - 399 Identifier: ISSN: 1018-4813
CoNE: https://pure.mpg.de/cone/journals/resource/954925585277_1