Evidence map›Paper›PMID 40986405›Full record

ArticleClinical genetics2026

HYPK-Related Neurodevelopmental Syndrome: Case Report of Intellectual Disability, Developmental Delay, and Dysmorphic Features.

Rahi Patel, Rikhil Makwana, Elaine Marchi, Ziyi Fan, Erin Falsey, Beatriz Menendez, Philip Giampietro, Ingrid M Wentzensen, Tzung-Chien Hsieh, Shu-Ou Shan and 1 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Review
  2. 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.

Rahi PatelDepartment of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.
Rikhil MakwanaDepartment of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.
Elaine MarchiDepartment of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.
Ziyi FanDivision of Chemistry and Chemical Engineering, California Institute of Technology, Pasadena, California, USA.ORCID 0000-0003-3793-2445
Erin FalseyUniversity of Illinois, and Shriners Hospital, Chicago, Illinois, USA.
Beatriz MenendezUniversity of Illinois, and Shriners Hospital, Chicago, Illinois, USA.
Philip GiampietroUniversity of Illinois, and Shriners Hospital, Chicago, Illinois, USA.
Ingrid M WentzensenGeneDx, LLC, Gaithersburg, Maryland, USA.
Tzung-Chien HsiehInstitute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.
Shu-Ou ShanDivision of Chemistry and Chemical Engineering, California Institute of Technology, Pasadena, California, USA.
Gholson J LyonDepartment of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.

Funding

Supplement: Accurate Molecular Decision Making during Protein BiogenesisR35GM136321 · NIGMS · CALIFORNIA INSTITUTE OF TECHNOLOGY · PI Shu-ou Shan · 2020 to 2026
$6.7M
NIGMS NIH HHS R35-GM-133408NIGMS NIH HHS R35 GM136321Office for People With Developmental Disabilities
6 · The paper itself

Abstract

HYPK is a critical modulator and inhibitor of the NatA complex. Here, we report a male proband with a de novo HYPK variant presenting with developmental delay, autism, and facial dysmorphia. Biochemical analyses show that this pathogenic variant enhances the inhibitory activity of HYPK on NatA-mediated N-terminal protein acetylation. Our findings provide the first phenotypic characterization of a pathogenic HYPK variant and elucidate its molecular basis, which will facilitate future diagnosis and management in similar cases worldwide.

Indexed as

Developmental DisabilitiesIntellectual DisabilityNeurodevelopmental DisordersHumansMaleMutationPhenotypedysmorphic faciesHYPKNatAneurodevelopmental syndrome

Identifiers

PMID40986405
PMCPMC12779223

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.