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We aimed at identifying the defective gene underlying an autosomal recessive ID in two sibs of an Emirati family.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A combined approach involving homozygosity mapping and whole-exome sequencing was used to identify the causative mutation. RNA analysis was performed to gain further insight into the pathogenic effect of the detected mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We have identified a homozygous splicing mutation (c.1219_1222+1delAAAGG) in the<jats:italic>LINS<\/jats:italic>gene in the affected children.<jats:italic>LINS<\/jats:italic>is the human homologue of the Drosophila segment polarity gene<jats:italic>lin<\/jats:italic>that encodes an essential regulator of the wingless\/Wnt signaling. The identified mutation alters the first consensus nucleotide of the 5' donor splice junction of intron 5 and the 3' end of exon 5. Transcript analysis revealed that this change leads to an exon skipping event resulting in direct splicing of exon 4 to exon 6. Another mutation in<jats:italic>LINS<\/jats:italic>has been described very briefly in an Iranian family with autosomal recessive ID and microcephaly.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our study confirms that<jats:italic>LINS<\/jats:italic>, a modulator of the WNT pathway, is an indispensable gene to human cognition and this finding sheds further light on the importance of WNT signaling in human brain development and\/or function.<\/jats:p><\/jats:sec>","DOI":"10.1186\/1750-1172-8-87","type":"journal-article","created":{"date-parts":[[2013,6,17]],"date-time":"2013-06-17T14:14:27Z","timestamp":1371478467000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["LINS, a modulator of the WNT signaling pathway, is involved in human cognition"],"prefix":"10.1186","volume":"8","author":[{"given":"Nadia A","family":"Akawi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatma","family":"Al-Jasmi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aisha M","family":"Al-Shamsi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bassam R","family":"Ali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lihadh","family":"Al-Gazali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2013,6,17]]},"reference":[{"key":"635_CR1","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1016\/j.gde.2008.07.008","volume":"18","author":"HH Ropers","year":"2008","unstructured":"Ropers HH: Genetics of intellectual disability. 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