Evidence map›Paper›PMID 40957966›Full record

ArticleJournal of human genetics2026

Evidence of maternal inheritance of Nizon-Isidor syndrome in an individual with GAMT and TNFRSF13B sequence variants.

Dibyendu Dutta, Jennifer Black, Daniela Macaya, Bobbi McGivern, Ria Garg

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Journal of human 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. Case Report: A novelFrontiers in psychiatry · 2026
    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

5 authors.

Dibyendu DuttaDepartment of Medicine, Division of Hematology and Oncology, State University of New York Upstate Medical University, Syracuse, NY, USA.ORCID http://orcid.org/0009-0003-8537-2515
Jennifer BlackCenter of Development, Behavior, and Genetics, State University of New York Upstate Medical University, Syracuse, NY, USA.
Daniela MacayaGeneDx, LLC, Gaithersburg, MD, USA.
Bobbi McGivernGeneDx, LLC, Gaithersburg, MD, USA.
Ria GargCenter of Development, Behavior, and Genetics, State University of New York Upstate Medical University, Syracuse, NY, USA. gargri@upstate.edu.ORCID http://orcid.org/0000-0003-3980-4981

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Nizon-Isidor syndrome (NIZIDS) is a rare neurodevelopmental disorder caused by heterozygous MED12L variants, where previously pathogenic single-nucleotide variants (SNVs) were only reported as de novo events. Here, we report the first case of maternally inherited MED12L nonsense variant in NIZIDS. Clinical assessment and family history evaluation revealed global developmental delay, intellectual disability, autism spectrum disorder, and speech impairment. Exome sequencing (ES) of the proband and both parents confirmed the presence of a maternally inherited likely pathogenic MED12L nonsense variant in the proband. Additional pathogenic variants in GAMT (maternal) and TNFRSF13B (paternal) genes were also identified in the proband. The clinical history of the mother suggested variable expressivity of the MED12L variant. Our case report challenges the presumed de novo inheritance of MED12L SNVs and demonstrates variable expressivity, thereby highlighting the benefit of a complete phenotype-driven approach when analyzing exome and genome data.

Indexed as

Autism Spectrum DisorderIntellectual DisabilityMaternal InheritanceMediator ComplexTransmembrane Activator and CAML Interactor ProteinExome SequencingFemaleHumansMalePedigreePhenotypePolymorphism, Single NucleotideMED12 protein, humanMediator ComplexTNFRSF13B protein, humanTransmembrane Activator and CAML Interactor Protein

Identifiers

PMID40957966

What OpenQuestion holds

Textmetadata
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.