Evidence map›Paper›PMID 41694697›Full record

ArticleCase reports in genetics2026

Three Unrelated Children With Childhood Apraxia of Speech: Exome Sequencing and Functional Gene Analysis Imply a Role of Laminin-511 in Early Neurodevelopment.

Caitlin Raaz, Laurel Bruce, Madhavi Ganapathiraju, Judith Klein-Seetharaman, Li Liu, Valentin Dinu, Marjan Chapi, Eunhyo Kim, Yookyung Kim, Tiffanie White and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Case reports in genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Caitlin RaazDepartment of Communication Sciences and Disorders, University of Northern Colorado, Greeley, 80639, Colorado, USA, unco.edu.ORCID https://orcid.org/0000-0003-2172-3630
Laurel BruceCollege of Health Solutions, Arizona State University, Phoenix, 85004, Arizona, USA, asu.edu.ORCID https://orcid.org/0000-0002-9620-3157
Madhavi GanapathirajuDepartment of Biomedical Informatics, University of Pittsburgh, Pittsburgh, 15260, Pennsylvania, USA, pitt.edu.ORCID https://orcid.org/0000-0002-3825-0924
Judith Klein-SeetharamanCollege of Health Solutions, Arizona State University, Phoenix, 85004, Arizona, USA, asu.edu.ORCID https://orcid.org/0000-0002-4892-6828
Li LiuCollege of Health Solutions, Arizona State University, Phoenix, 85004, Arizona, USA, asu.edu.ORCID https://orcid.org/0000-0003-4002-7497
Valentin DinuCollege of Health Solutions, Arizona State University, Phoenix, 85004, Arizona, USA, asu.edu.ORCID https://orcid.org/0000-0001-6192-7836
Marjan ChapiCollege of Health Solutions, Arizona State University, Phoenix, 85004, Arizona, USA, asu.edu.
Eunhyo KimCollege of Health Solutions, Arizona State University, Phoenix, 85004, Arizona, USA, asu.edu.
Yookyung KimCollege of Health Solutions, Arizona State University, Phoenix, 85004, Arizona, USA, asu.edu.ORCID https://orcid.org/0009-0003-0122-5842
Tiffanie WhiteCollege of Veterinary Medicine, University of Georgia, Athens, 30602, Georgia, USA, uga.edu.
Beate PeterCollege of Health Solutions, Arizona State University, Phoenix, 85004, Arizona, USA, asu.edu.ORCID https://orcid.org/0000-0002-9083-8522

Funding

UW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3M
NHGRI Genome Sequencing Program Coordinating CenterU24HG008956 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI BUYSKE, STEVEN G, MATISE, TARA C. · 2016 to 2020
$4.9M
Genetics of speech disordersR03DC010886 · NIDCD · UNIVERSITY OF WASHINGTON · PI PETER, BEATE · 2011 to 2013
$460k
NHGRI NIH HHS U24 HG008956NHGRI NIH HHS UM1 HG006493NIDCD NIH HHS R03 DC010886
6 · The paper itself

Abstract

Childhood apraxia of speech (CAS) is characterized by motor discoordination in the speech domain and also in fine and gross motor systems, implicating the early developing cerebellum. Comorbidity with autism spectrum disorder (ASD) and other neurodevelopmental conditions has been observed. The genetic etiology is highly heterogeneous. Here, we present three unrelated individuals with CAS and concomitant fine and gross motor involvement but different genetic variants of interest. The DNA of the cases and their parents underwent exome sequencing and variant filtering. Using publicly available data, the genes of interest derived from the variants were investigated for expression rates in the early developing brain. Known and putative protein-protein interactions among the genes of highest confidence were identified. Of 28 variants in 28 different genes, variants with highest confidence were situated in

Indexed as

cerebellumchildhood apraxia of speechfine and gross motor delaygene expression in the prenatal brainprotein–protein interactionwhole exome sequencing

Identifiers

PMID41694697
PMCPMC12905466

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.