ArticlePloS one2016
Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 60 citations in OpenAlex.
- Developmental Convergence Across Diverse Genetic Architectures in Childhood Apraxia of Speech.bioRxiv : the preprint server for biology · 2026Article
- Diagnosing Apraxia of Speech in Children and Adults When There Is No Gold Standard: A Scoping Review About the Diagnostic Process.American journal of speech-language pathology · 2026Article
- Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.Human genetics · 2025Article
- Methylome-wide association study of multidimensional resilience.Development and psychopathology · 2025Article
- Multi-omics analysis unveils a four-gene prognostic signature in esophageal squamous carcinoma and the therapeutic potential of PKP1.BMC cancer · 2025Article
- Article
- Pathogenic/likely pathogenic mutations identified in Vietnamese children diagnosed with autism spectrum disorder using high-resolution SNP genotyping platform.Scientific reports · 2024Article
- Complex genomic rearrangement with deletion ofMolecular vision · 2024Review
- Precision Medicine as a New Frontier in Speech-Language Pathology: How Applying Insights From Behavior Genomics Can Improve Outcomes in Communication Disorders.American journal of speech-language pathology · 2023Article
- Family-Based Whole-Exome Analysis of Specific Language Impairment (SLI) Identifies Rare Variants inBrain sciences · 2021Article
- Psychosocial Comorbidities in Adolescents With Histories of Childhood Apraxia of Speech.American journal of speech-language pathology · 2021Article
- Continent-wide genomic signatures of adaptation to urbanisation in a songbird across Europe.Nature communications · 2021Article
- Feature-driven classification reveals potential comorbid subtypes within childhood apraxia of speech.BMC pediatrics · 2020Article
- The ZGRF1 Helicase Promotes Recombinational Repair of Replication-Blocking DNA Damage in Human Cells.Cell reports · 2020Article
- ZGRF1 Is Associated with Poor Prognosis in Triple-Negative Breast Cancer and Promotes Cancer Stemness Based on Bioinformatics.OncoTargets and therapy · 2020Article
- Reading Outcomes for Individuals With Histories of Suspected Childhood Apraxia of Speech.American journal of speech-language pathology · 2019Article
- A Psycholinguistic Framework for Diagnosis and Treatment Planning of Developmental Speech Disorders.Folia phoniatrica et logopaedica : official organ of the International Association of Logopedics and Phoniatrics (IALP) · 2019Article
- Sequential processing deficit as a shared persisting biomarker in dyslexia and childhood apraxia of speech.Clinical linguistics & phonetics · 2018Article
- Novel transcriptional networks regulated by CLOCK in human neurons.Genes & development · 2017Article
- A Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: I. Development and Description of the Pause Marker.Journal of speech, language, and hearing research : JSLHR · 2017Review
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
Childhood apraxia of speech (CAS) is a severe and socially debilitating form of speech sound disorder with suspected genetic involvement, but the genetic etiology is not yet well understood. Very few known or putative causal genes have been identified to date, e.g., FOXP2 and BCL11A. Building a knowledge base of the genetic etiology of CAS will make it possible to identify infants at genetic risk and motivate the development of effective very early intervention programs. We investigated the genetic etiology of CAS in two large multigenerational families with familial CAS. Complementary genomic methods included Markov chain Monte Carlo linkage analysis, copy-number analysis, identity-by-descent sharing, and exome sequencing with variant filtering. No overlaps in regions with positive evidence of linkage between the two families were found. In one family, linkage analysis detected two chromosomal regions of interest, 5p15.1-p14.1, and 17p13.1-q11.1, inherited separately from the two founders. Single-point linkage analysis of selected variants identified CDH18 as a primary gene of interest and additionally, MYO10, NIPBL, GLP2R, NCOR1, FLCN, SMCR8, NEK8, and ANKRD12, possibly with additive effects. Linkage analysis in the second family detected five regions with LOD scores approaching the highest values possible in the family. A gene of interest was C4orf21 (ZGRF1) on 4q25-q28.2. Evidence for previously described causal copy-number variations and validated or suspected genes was not found. Results are consistent with a heterogeneous CAS etiology, as is expected in many neurogenic disorders. Future studies will investigate genome variants in these and other families with CAS.
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