Am J Hum Genet January 2025 PMID 39706195

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus.

Marcello Scala, Clarrisa A Bradley, Jennifer L Howe, Brett Trost, Nelson Bautista Salazar, Carole Shum, Marla Mendes, Miriam S Reuter, Evdokia Anagnostou, Jeffrey R MacDonald, Sangyoon Y Ko, Paul W Frankland, Jessica Charlebois, Mayada Elsabbagh, Leslie Granger

Mentions

67
Peak: 11 in Dec 2024
across 5 sources since Dec 2023

Extended reach

670,518
potential audience

Total likes

49

Video views

2,201

Mentions per month

Dec 2023 – May 2025

Where it's discussed

  • X / Twitter34 posts
  • News24 articles
  • Blogs4 articles
  • YouTube3 videos
  • Bluesky2 posts

AI synopsis

What people are saying

The group of social discussions collectively emphasizes the importance of genetic research in autism, frequently referencing the link between variants in DDX53 and autism spectrum disorder. Words like 'definitive proof,' 'key to understanding,' and phrases such as 'highlights its role in genetic testing' show a strong consensus on the significance and impact of these findings, reflecting both interest and belief in their importance.

AgreementModerate agreement

Most discussions strongly support the genetic basis of autism, emphasizing the significance of the DDX53 findings and dismissing misconceptions about vaccines.

InterestHigh interest

Posts demonstrate high curiosity, often highlighting new research results and their implications for understanding autism.

EngagementHigh engagement

Several discussions reference specific genetic studies and their broader implications, reflecting deep consideration and connection with the research.

ImpactHigh impact

Many posts underscore the importance of these genetic discoveries for future research, diagnosis, and understanding autism's causes, suggesting a high perceived impact.

Abstract in brief

  • The study investigates the role of genetic variants in the DDX53 gene located at the Xp2211 locus, which has been linked to autism spectrum disorder (ASD), especially in males.
  • Researchers identified rare damaging or loss-of-function variants in DDX53 in multiple individuals with ASD through clinical testing and analysis of genetic databases, suggesting a direct genetic contribution to ASD.
  • The absence of a functional mouse equivalent for DDX53 indicates challenges in animal modeling for ASD research, highlighting the importance of genetic testing and cautious interpretation of mouse studies in understanding ASD.]

Top posts

Most liked on X and Bluesky
Simone
@SimonePands1111 · X

@EricG1247 @SenBillCassidy ZERO connection between vaccines and autism Dozens of studies over decades on millions show GENETICS as predominant factor https://t.co/7tnx0HJyNg https://t.co/EY46ntX5N2 https://t.co/zqZUqLMCAF https://t.co/bZkte2LieD https://t.co/7SBoIDsx7e https://t.co/5SHmY64b7l https://t.co/rV9RtqyFhU

Feb 23, 2025 · 8 likes · 2 shares · 2,724 followers View post →
AJHG
@AJHGNews · X

Dec 19, 2024 · 4 likes · 2 shares · 10,313 followers View post →
Simone
@SimonePands1111 · X

@dr_andrealove Genetic discovery links new gene to autism spectrum disorder Posted on December 19, 2024 Summary Variants in the DDX53 and other genes on the X chromosome provide genetic clues to male prevalence in ASD https://t.co/7SBoIDt4WM https://t.co/zqZUqLNaqd https://t.co/1XpjjUI71X https://t.co/i1pYYm2jNw

Apr 18, 2025 · 4 likes · 2 shares · 2,724 followers View post →
Simone
@SimonePands1111 · X

@hpb37 @Crash_the_Flash @DrNeilStone Autism is primarily genetic based Discoveries on the X chromosome definitive proof Excellent new genetic studies included below https://t.co/7tnx0HJyNg https://t.co/5SHmY64b7l https://t.co/7SBoIDsx7e https://t.co/zqZUqLMCAF https://t.co/1XpjjUHzcp https://t.co/EY46ntX5N2 https://t.co/4sHKLjv70V https://t.co/u0rEHs3K3t

Feb 15, 2025 · 3 likes · 1 share · 2,724 followers View post →
Harry Pantazopoulos
@HarryPantazopo1 · X

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus: The American Journal of Human Genetics https://t.co/83EbdbPQl3

Dec 19, 2024 · 3 likes · 174 followers View post →
The man in the low closet
@TheManInTheLow2 · X

@ScaltritiLab Grazie per il tuo lavoro Maurizio. Puoi dirci qualcosa in merito a questo? Ne han dato notizia i media italiani. https://t.co/B2B5LRX9JC

Dec 24, 2024 · 2 likes · 2,868 followers View post →

All mentions

Simone
@SimonePands1111 · X

RT @SimonePands1111: @MeeshFL @DrNeilStone We DO know what causes autism.. and its NOT vaccines Predominantly genetics, also early in uter…

May 17, 2025 · 1 share · 2,724 followers View post →
Simone
@SimonePands1111 · X

@MeeshFL @DrNeilStone We DO know what causes autism.. and its NOT vaccines Predominantly genetics, also early in utero assault https://t.co/7SBoIDt4WM https://t.co/7tnx0HK6CO https://t.co/QdVFj5wDUk https://t.co/zqZUqLNaqd https://t.co/1XpjjUI71X https://t.co/qYOIdL5OWM https://t.co/akfm31aC3M https://t.co/wHNhV50UXx

May 17, 2025 · 1 like · 1 share · 2,724 followers View post →
Simone
@SimonePands1111 · X

@JesslovesMJK Fact is “collective intelligence” shows autism IS most strongly connected to genetics Genetic discovery links new gene to autism spectrum disorder Variants in the DDX53 & other genes on the X chromosome https://t.co/7SBoIDt4WM https://t.co/zqZUqLNaqd https://t.co/1XpjjUI71X https://t.co/HVejtF2GAE

Apr 22, 2025 · 2,724 followers View post →
Skogsroet
@N80048Skogsroet · X

@JJ7431 @Red_Pill_US https://t.co/iJ4jEms2nD Genetics is one of many possible causes of autism, which is often observed in families. However, its etiology is likely multifactorial

Apr 18, 2025 · 33 followers View post →
Simone
@SimonePands1111 · X

RT @SimonePands1111: @dr_andrealove Genetic discovery links new gene to autism spectrum disorder Posted on December 19, 2024 Summary Vari…

Apr 18, 2025 · 2 shares · 2,724 followers View post →
Simone
@SimonePands1111 · X

@dr_andrealove Genetic discovery links new gene to autism spectrum disorder Posted on December 19, 2024 Summary Variants in the DDX53 and other genes on the X chromosome provide genetic clues to male prevalence in ASD https://t.co/7SBoIDt4WM https://t.co/zqZUqLNaqd https://t.co/1XpjjUI71X https://t.co/i1pYYm2jNw

Apr 18, 2025 · 4 likes · 2 shares · 2,724 followers View post →
Simone
@SimonePands1111 · X

RT @SimonePands1111: @atrupar Genetic discovery links new gene to autism spectrum disorder Variants in the DDX53 and other genes on the X…

Apr 11, 2025 · 1 share · 2,724 followers View post →
Simone
@SimonePands1111 · X

@atrupar Genetic discovery links new gene to autism spectrum disorder Variants in the DDX53 and other genes on the X chromosome provide genetic clues to male prevalence in ASD https://t.co/7SBoIDt4WM https://t.co/zqZUqLNaqd https://t.co/1XpjjUI71X https://t.co/sNv4hOLcOf

Apr 11, 2025 · 1 like · 1 share · 2,724 followers View post →
None-ya
@AllKnowingGuru · X

@atrupar Autism has been documented multiple times as showing hereditary links. also just recently published in Am Jour of Human Genetics. https://t.co/AUziGRqtTq This guy's gotta go.

Apr 10, 2025 · 529 followers View post →
Ian Mccloy
@IanMccloy3 · X

RT @SimonePands1111: @EricG1247 @SenBillCassidy ZERO connection between vaccines and autism Dozens of studies over decades on millions sho…

Mar 10, 2025 · 2 shares · 1,713 followers View post →
Simone
@SimonePands1111 · X

@Muchfaster @PhilipRafferty5 @DrNeilStone Faster, have you seen these 2 new studies showing direct genetic link to autism? Genetic variants on the X chromosome has implicated >20 genes in ASD Decades of research and now indomitable proof https://t.co/7SBoIDsx7e 1. https://t.co/zqZUqLMCAF 2. https://t.co/1XpjjUHzcp https://t.co/4Xsokw0BAV

Feb 24, 2025 · 1 like · 2,724 followers View post →
Simone
@SimonePands1111 · X

RT @SimonePands1111: @EricG1247 @SenBillCassidy ZERO connection between vaccines and autism Dozens of studies over decades on millions sho…

Feb 23, 2025 · 2 shares · 2,724 followers View post →
Simone
@SimonePands1111 · X

@EricG1247 @SenBillCassidy ZERO connection between vaccines and autism Dozens of studies over decades on millions show GENETICS as predominant factor https://t.co/7tnx0HJyNg https://t.co/EY46ntX5N2 https://t.co/zqZUqLMCAF https://t.co/bZkte2LieD https://t.co/7SBoIDsx7e https://t.co/5SHmY64b7l https://t.co/rV9RtqyFhU

Feb 23, 2025 · 8 likes · 2 shares · 2,724 followers View post →
Simone
@SimonePands1111 · X

RT @SimonePands1111: @realCurtAdams @SabinehazanMD @AlexBerenson More conspiracies

Feb 22, 2025 · 1 share · 2,724 followers View post →
Simone
@SimonePands1111 · X

@realCurtAdams @SabinehazanMD @AlexBerenson More conspiracies

Feb 22, 2025 · 1 share · 2,724 followers View post →
Simone
@SimonePands1111 · X

RT @SimonePands1111: @hpb37 @Crash_the_Flash @DrNeilStone Autism is primarily genetic based Discoveries on the X chromosome definitive pro…

Feb 15, 2025 · 1 share · 2,724 followers View post →
Simone
@SimonePands1111 · X

@hpb37 @Crash_the_Flash @DrNeilStone Autism is primarily genetic based Discoveries on the X chromosome definitive proof Excellent new genetic studies included below https://t.co/7tnx0HJyNg https://t.co/5SHmY64b7l https://t.co/7SBoIDsx7e https://t.co/zqZUqLMCAF https://t.co/1XpjjUHzcp https://t.co/EY46ntX5N2 https://t.co/4sHKLjv70V https://t.co/u0rEHs3K3t

Feb 15, 2025 · 3 likes · 1 share · 2,724 followers View post →
ShorterLab
@ShorterLab · X

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus: The American Journal of Human Genetics https://t.co/uoUBGhioHF

Jan 30, 2025 · 1 like · 12,027 followers View post →
Shicheng Guo
@ShihchengGuo · X

Genetic variants in DDX53 linked to ASD in males with Xp22.11 locus involvement. PTCHD1 near same site. Key to understanding 4:1 male-female ASD ratio. #AutismResearch PMID:39706195, Am J Hum Genet 2025 https://t.co/vLAAIzAbiI

Jan 5, 2025 · 495 followers View post →
Shicheng Guo
@ShihchengGuo · X

Genetic variants in DDX53 linked to ASD in males with Xp22.11 locus involvement. PTCHD1 & PTCHD1-AS near same site. Key to understanding 4:1 male-female ASD ratio. #AutismResearch PMID:39706195, Am J Hum Genet 2025 https://t.co/vLAAIzAbiI

Jan 5, 2025 · 495 followers View post →
Hemingway The Dog Mom
@cjprof4 · X

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus. The American Journal of Human Genetics, 2024; DOI: 10.1016/j.ajhg.2024.11.003

Jan 3, 2025 · 3,440 followers View post →
AJHG
@AJHGNews · X

RT @UDNconnect: Check out the most recent UDN publication! ⭐️Key takeaway: Rare damaging variants in #DDX53 are linked to autism, highligh…

Jan 2, 2025 · 1 share · 10,313 followers View post →
UDN
@UDNconnect · X

Check out the most recent UDN publication! ⭐️Key takeaway: Rare damaging variants in #DDX53 are linked to autism, highlighting its role in genetic testing and challenges for murine ASD models. https://t.co/KbzQezRT01 @UDNForg

Jan 2, 2025 · 1 like · 1 share · 4,401 followers View post →
The man in the low closet
@TheManInTheLow2 · X

@ScaltritiLab Grazie per il tuo lavoro Maurizio. Puoi dirci qualcosa in merito a questo? Ne han dato notizia i media italiani. https://t.co/B2B5LRX9JC

Dec 24, 2024 · 2 likes · 2,868 followers View post →
Ken Milne MD
@TheSGEM · X

@DrJ_surgeon Study published open access https://t.co/O9uUIHGoTW

Dec 23, 2024 · 28,206 followers View post →
Ken Milne MD
@TheSGEM · X

@NightShiftMD @globeandmail @DrJ_surgeon Link to the primary study. https://t.co/O9uUIHFR4o

Dec 23, 2024 · 28,206 followers View post →
Stetson
@stetson_thacker · X

RT @AJHGNews:

Dec 20, 2024 · 2 shares · 875 followers View post →
Elfride De Baere
@elfridedebaere · X

RT @AJHGNews:

Dec 20, 2024 · 2 shares · 1,652 followers View post →
Harry Pantazopoulos
@hpantazo.bsky.social · Bluesky

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus: The American Journal of Human Genetics www.cell.com/ajhg/fulltex...

Dec 19, 2024 View post →
Harry Pantazopoulos
@HarryPantazopo1 · X

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus: The American Journal of Human Genetics https://t.co/83EbdbPQl3

Dec 19, 2024 · 3 likes · 174 followers View post →
DiseaseGenes
@DiseaseGenes · X

RT @FranMartinezGr: Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus #RareDisease #Genetics #morbidgene https://t.co/Nm2Sm8zgUi https://t.co/OMOctJ2qrT

Dec 19, 2024 · 2 likes · 1,390 followers View post →
Francisco Martínez
@FranMartinezGr · X

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus #RareDisease #Genetics #morbidgene https://t.co/Z33BV2DlnT https://t.co/vZxNeSS42l

Dec 19, 2024 · 172 followers View post →
AJHG
@AJHGNews · X

Dec 19, 2024 · 4 likes · 2 shares · 10,313 followers View post →
Neuroscience News
@NeuroscienceNew · X

“Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus” by Stephen Scherer et al. American Journal of Human Genetics https://t.co/hmckYArb2x

Dec 19, 2024 · 1 like · 505,364 followers View post →
medRxivpreprint
@medrxivpreprint.bsky.social · Bluesky

Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus https://www.medrxiv.org/content/10.1101/2023.12.21.23300383v1

Dec 27, 2023 View post →
medRxiv
@medrxivpreprint · X

Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus https://t.co/rqNAWvUlhC #medRxiv

Dec 27, 2023 · 17,464 followers View post →