ArticleAmerican journal of human genetics2006
Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia.
Article in American journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 84 papers.
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
84 citing papers in PubMed, 185 citations in OpenAlex.
- Diagnosis and management of Silver-Russell syndrome: second international consensus statement.Nature reviews. Endocrinology · 2026Review
- Childhood Apraxia of Speech: A Descriptive and Prescriptive Model of Assessment and Diagnosis.Brain sciences · 2024Article
- In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disruptingJournal of medical genetics · 2023Article
- Case report: Paternal uniparental disomy on chromosome 7 and homozygousFrontiers in genetics · 2023Article
- Article
- A 9.8 Mb deletion at 7q31.2q31.31 downstream ofClinical case reports · 2022Article
- A comprehensive benchmarking of WGS-based deletion structural variant callers.Briefings in bioinformatics · 2022Article
- Evolution of genetic mechanisms regulating cortical neurogenesis.Developmental neurobiology · 2022Review
- The Genetic and Molecular Basis of Developmental Language Disorder: A Review.Children (Basel, Switzerland) · 2022Review
- Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum features.Cold Spring Harbor molecular case studies · 2021Article
- Article
- Molecular networks of the FOXP2 transcription factor in the brain.EMBO reports · 2021Review
- Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum.The Journal of clinical endocrinology and metabolism · 2021Article
- Evaluation of the effects of the T-type calcium channel enhancer SAK3 in a rat model of TAF1 deficiency.Neurobiology of disease · 2021Article
- Case Report: Expressive Speech Disorder in a Family as a Hallmark of 7q31 Deletion Involving theFrontiers in pediatrics · 2021Article
- Sex-Specific Social Behavior and Amygdala Proteomic Deficits inFrontiers in behavioral neuroscience · 2021Article
- Sex-and Region-Dependent Expression of the Autism-Linked ADNP Correlates with Social- and Speech-Related Genes in the Canary Brain.Journal of molecular neuroscience : MN · 2020Article
- Language characterization in 16p11.2 deletion and duplication syndromes.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2020Article
- Genetic Intersections of Language and Neuropsychiatric Conditions.Current psychiatry reports · 2020Review
- Identification of a de novo FOXP1 mutation and incidental discovery of inherited genetic variants contributing to a case of autism spectrum disorder and epilepsy.Molecular genetics & genomic medicine · 2019Article
24 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
23 authors at 13 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in FOXP2 cause developmental verbal dyspraxia (DVD), but only a few cases have been described. We characterize 13 patients with DVD--5 with hemizygous paternal deletions spanning the FOXP2 gene, 1 with a translocation interrupting FOXP2, and the remaining 7 with maternal uniparental disomy of chromosome 7 (UPD7), who were also given a diagnosis of Silver-Russell Syndrome (SRS). Of these individuals with DVD, all 12 for whom parental DNA was available showed absence of a paternal copy of FOXP2. Five other individuals with deletions of paternally inherited FOXP2 but with incomplete clinical information or phenotypes too complex to properly assess are also described. Four of the patients with DVD also meet criteria for autism spectrum disorder. Individuals with paternal UPD7 or with partial maternal UPD7 or deletion starting downstream of FOXP2 do not have DVD. Using quantitative real-time polymerase chain reaction, we show the maternally inherited FOXP2 to be comparatively underexpressed. Our results indicate that absence of paternal FOXP2 is the cause of DVD in patients with SRS with maternal UPD7. The data also point to a role for differential parent-of-origin expression of FOXP2 in human speech development.
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.