Journal Article

A frameshift mutation of <i>ERLIN2</i> in recessive intellectual disability, motor dysfunction and multiple joint contractures

Yeşerin Yıldırım, Elif Kocasoy Orhan, Sibel Aylin Ugur Iseri, Piraye Serdaroglu-Oflazer, Bülent Kara, Seyhun Solakoğlu and Aslıhan Tolun

in Human Molecular Genetics

Volume 20, issue 10, pages 1886-1892
Published in print May 2011 | ISSN: 0964-6906
Published online February 2011 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/ddr070
A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures

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We present a family afflicted with a novel autosomal recessive disease characterized by progressive intellectual disability, motor dysfunction and multiple joint contractures. No pathology was found by cranial imaging, electromyography and muscle biopsy, but electron microscopy in leukocytes revealed large vacuoles containing flocculent material. We mapped the disease gene by SNP genome scan and linkage analysis to an ∼0.80 cM and 1 Mb region at 8p11.23 with a multipoint logarithm of odds (LOD) score of 12. By candidate gene approach, we identified a homozygous two-nucleotide insertion in ERLIN2, predicted to lead to the truncation of the protein by about 20%. The gene encodes endoplasmic reticulum (ER) lipid raft-associated protein 2 that mediates the ER-associated degradation of activated inositol 1,4,5-trisphosphate receptors and other substrates.

Journal Article.  4036 words.  Illustrated.

Subjects: Genetics and Genomics

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