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  New evidence for the role of calpain 10 in autosomal recessive intellectual disability: identification of two novel nonsense variants by exome sequencing in Iranian families

Oladnabi, M., Musante, L., Larti, F., Hu, H., Abedini, S. S., Wienker, T. F., et al. (2015). New evidence for the role of calpain 10 in autosomal recessive intellectual disability: identification of two novel nonsense variants by exome sequencing in Iranian families. Archives of Iranian Medicine, 18(3), 179-184. doi:0151803/AIM.008.

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Item Permalink: http://hdl.handle.net/21.11116/0000-0000-BF74-7 Version Permalink: http://hdl.handle.net/21.11116/0000-0000-BF75-6
Genre: Journal Article

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 Creators:
Oladnabi, M., Author
Musante, L., Author
Larti, F., Author
Hu, H., Author
Abedini, S. S., Author
Wienker, T. F.1, Author              
Ropers, H. H.2, Author              
Kahrizi, K., Author
Najmabadi, H., Author
Affiliations:
1Clinical 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              
2Emeritus Group of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385695              

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Free keywords: Adolescent Adult Brain/pathology Calpain/*genetics/physiology *Codon, Nonsense *Exome Female High-Throughput Nucleotide Sequencing Humans Intellectual Disability/*genetics Magnetic Resonance Imaging Male Polymorphism, Single Nucleotide
 Abstract: BACKGROUND: Knowledge of the genes responsible for intellectual disability, particularly autosomal recessive forms, is rapidly expanding. Increasing numbers of the gene show great heterogeneity and supports the hypothesis that human genome may contain over 2000 causative genes with a critical role in brain development. METHODS: Since 2004, we have applied genome-wide SNP genotyping and next-generation sequencing in large consanguineous Iranian families with intellectual disability, to identify the genes harboring disease-causing mutations. The current study paved the way for identification of responsible genes in two unrelated Iranian families. RESULTS: We found two novel nonsense mutations, p.C77* and p.Q115*, in the calpain catalytic domain of CAPN10, which is a cysteine protease known to be involved in pathogenesis of noninsulin-dependent diabetes mellitus. Another different mutation in this gene (p.S138_R139ins5) has previously been reported in an Iranian family. All of these patients have common clinical features in spite of specific brain structural abnormalities on MRI. CONCLUSIONS: Different mutations in CAPN10 have already been found in three independent Iranian families. These results have strongly supported the possible role of CAPN10 in human brain development. Altogether, we proposed CAPN10 as a promising candidate gene for intellectual disability, which should be considered in diagnostic gene panels.

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Language(s): eng - English
 Dates: 2015-03
 Publication Status: Published in print
 Pages: 6
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: DOI: 0151803/AIM.008
ISSN: 1735-3947 (Electronic)1029-2977 (Print)
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Title: Archives of Iranian Medicine
Source Genre: Journal
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Publ. Info: Academy of Medical Sciences of I.R. Iran
Pages: - Volume / Issue: 18 (3) Sequence Number: - Start / End Page: 179 - 184 Identifier: -