ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- Depression pathophysiology, risk prediction of recurrence and comorbid psychiatric disorders using genome-wide analyses.Nature medicine · 2023Pooled it
- Novel mega-deletion in BFSP1 causing autosomal recessive juvenile cataract in a Pakistani consanguineous family.Molecular biology reports · 2026Article
- Examination of DNA Methylation Patterns in Children Born Premature with Prenatal Tobacco Smoke Exposure.Toxics · 2025Article
- Deciphering the Genetic Basis of Degenerative and Developmental Eye Disorders in 50 Pakistani Consanguineous Families Using Whole-Exome Sequencing.International journal of molecular sciences · 2025Article
- The genetic cause of neurodevelopmental disorders in 30 consanguineous families.Frontiers in medicine · 2024Article
- FOXI3 pathogenic variants cause one form of craniofacial microsomia.Nature communications · 2023Article
- Article
- Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder.NPJ genomic medicine · 2021Article
- Congenital cataract: An ocular manifestation of classical homocystinuria.Molecular genetics & genomic medicine · 2021Article
- Article
- A Genocentric Approach to Discovery of Mendelian Disorders.American journal of human genetics · 2019Article
- Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.American journal of human genetics · 2019Article
- Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.American journal of human genetics · 2019Article
- Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.Human molecular genetics · 2019Article
- Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.American journal of human genetics · 2018Article
- Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3.Human molecular genetics · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
26 authors at 13 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo elucidate the novel molecular cause in two unrelated consanguineous families with autosomal recessive intellectual disability.
methodsA combination of homozygosity mapping and exome sequencing was used to locate the plausible genetic defect in family F162, while only exome sequencing was followed in the family PKMR65. The protein 3D structure was visualized with the University of California-San Francisco Chimera software.
resultsAll five patients from both families presented with severe intellectual disability, aggressive behavior, and speech and motor delay. Four of the five patients had microcephaly. We identified homozygous missense variants in LINGO1, p.(Arg290His) in family F162 and p.(Tyr288Cys) in family PKMR65. Both variants were predicted to be pathogenic, and segregated with the phenotype in the respective families. Molecular modeling of LINGO1 suggests that both variants interfere with the glycosylation of the protein.
conclusionLINGO1 is a transmembrane receptor, predominantly found in the central nervous system. Published loss-of-function studies in mouse and zebrafish have established a crucial role of LINGO1 in normal neuronal development and central nervous system myelination by negatively regulating oligodendrocyte differentiation and neuronal survival. Taken together, our results indicate that biallelic LINGO1 missense variants cause autosomal recessive intellectual disability in humans.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.