Trial reportHuman genetics2013
Linkage analysis of a large African family segregating stuttering suggests polygenic inheritance.
Trial report in Human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
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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, 57 citations in OpenAlex.
- Unraveling Stuttering Through a Multi-Omics Lens.Life (Basel, Switzerland) · 2025Article
- Genome-Wide Mapping of Consanguineous Families Confirms Previously Implicated Gene Loci and Suggests New Loci in Specific Language Impairment (SLI).Children (Basel, Switzerland) · 2024Article
- Population-based genetic effects for developmental stuttering.HGG advances · 2022Article
- IFNAR1 gene mutation may contribute to developmental stuttering in the Chinese population.Hereditas · 2021Article
- Evaluation of recurrentAdvanced genetics (Hoboken, N.J.) · 2021Article
- Pedigree-Based Gene Mapping Supports Previous Loci and Reveals Novel Suggestive Loci in Specific Language Impairment.Journal of speech, language, and hearing research : JSLHR · 2020Article
- Uveitis and Multiple Sclerosis: Potential Common Causal Mutations.Molecular neurobiology · 2019Article
- A genome-wide analysis in consanguineous families reveals new chromosomal loci in specific language impairment (SLI).European journal of human genetics : EJHG · 2019Article
- Are variants in sex hormone metabolizing genes associated with stuttering?Brain and language · 2019Article
- Genetic contributions to stuttering: the current evidence.Molecular genetics & genomic medicine · 2017Article
- Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.American journal of human genetics · 2015Article
- Challenges and solutions for gene identification in the presence of familial locus heterogeneity.European journal of human genetics : EJHG · 2015Article
- Insights into the genetic foundations of human communication.Neuropsychology review · 2015Review
- Neurogenomics of speech and language disorders: the road ahead.Genome biology · 2013Review
- A role for inherited metabolic deficits in persistent developmental stuttering.Molecular genetics and metabolism · 2012Review
- High prevalence of pineal cysts in adults who stutter.Brain and languageArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
We describe a pedigree of 71 individuals from the Republic of Cameroon in which at least 33 individuals have a clinical diagnosis of persistent stuttering. The high concentration of stuttering individuals suggests that the pedigree either contains a single highly penetrant gene variant or that assortative mating led to multiple stuttering-associated variants being transmitted in different parts of the pedigree. No single locus displayed significant linkage to stuttering in initial genome-wide scans with microsatellite and SNP markers. By dividing the pedigree into five subpedigrees, we found evidence for linkage to previously reported loci on 3q and 15q, and to novel loci on 2p, 3p, 14q, and a different region of 15q. Using the two-locus mode of Superlink, we showed that combining the recessive locus on 2p and a single-locus additive representation of the 15q loci is sufficient to achieve a two-locus score over 6 on the entire pedigree. For this 2p + 15q analysis, we show LOD scores ranging from 4.69 to 6.57, and the scores are sensitive to which marker is chosen for 15q. Our findings provide strong evidence for linkage at several loci.
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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.