ArticleOrphanet journal of rare diseases2013
LINS, a modulator of the WNT signaling pathway, is involved in human cognition.
Article in Orphanet journal of rare diseases, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed.
- Identification of a Novel Missense Homozygous Variant in LINS1 in Two Distinct Iranian Families With Consanguineous Marriage.Molecular genetics & genomic medicine · 2026Article
- Hyd/UBR5 defines a tumor suppressor pathway that links Polycomb repressive complex to regulated protein degradation in tissue growth control and tumorigenesis.Genes & development · 2024Article
- Proteomic Analysis on Sequential Samples of Cystic Fluid Obtained from Human Brain Tumors.Cancers · 2023Article
- Identification of a novel nonsense homozygous mutation of LINS1 gene in two sisters with intellectual disability, schizophrenia, and anxiety.Biomedical journal · 2021Article
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- A Novel LINS1 Truncating Mutation in Autosomal Recessive Nonsyndromic Intellectual Disability.Frontiers in psychiatry · 2020Article
- Genetics of intellectual disability in consanguineous families.Molecular psychiatry · 2019Article
- Quantifying the contribution of recessive coding variation to developmental disorders.Science (New York, N.Y.) · 2018Article
- Worster-Drought Syndrome Associated WithChild neurology open · 2018Article
- Chromosome 15 structural abnormalities: effect onEndocrine connections · 2017Article
- A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement.Orphanet journal of rare diseases · 2016Article
- Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.Nature genetics · 2015Article
- Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay.Metabolic brain disease · 2015Article
- A novel whole exon deletion in WWOX gene causes early epilepsy, intellectual disability and optic atrophy.Journal of molecular neuroscience : MN · 2015Article
- Distal Partial Trisomy 15q26 and Partial Monosomy 16p13.3 in a 36-Year-Old Male with Clinical Features of Both Chromosomal Abnormalities.Cytogenetic and genome research · 2015Article
- Article
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5 authors.
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Abstract
backgroundInherited intellectual disability (ID) conditions are a group of genetically heterogeneous disorders that lead to variable degrees of cognition deficits. It has been shown that inherited ID can be caused by mutations in over 100 different genes and there is evidence for the presence of as yet unidentified genes in a significant proportion of patients. We aimed at identifying the defective gene underlying an autosomal recessive ID in two sibs of an Emirati family.
methodsA 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.
resultsWe have identified a homozygous splicing mutation (c.1219_1222+1delAAAGG) in the LINS gene in the affected children. LINS is the human homologue of the Drosophila segment polarity gene lin 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 LINS has been described very briefly in an Iranian family with autosomal recessive ID and microcephaly.
conclusionOur study confirms that LINS, 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.
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