Evidence map›Paper›PMID 41236159›Full record

ArticleAmerican journal of medical genetics. Part A2026

Nance-Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes.

Maria K Haanpää, Chad R Haldeman-Englert, Marja Hietala, Melisa S Tanverdi, Patrick P Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur and 5 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of medical genetics. Part A, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

15 authors.

Maria K HaanpääDepartment of Clinical Genetics, Turku University Hospital, Turku, Finland.
Chad R Haldeman-EnglertCone Health, Greensboro, North Carolina, USA.
Marja HietalaDepartment of Clinical Genetics, Turku University Hospital, Turku, Finland.
Melisa S TanverdiDepartment of Pediatrics, University of Colorado, Colorado, USA.
Patrick P KotyDepartment of Pediatrics, Section on Medical Genetics, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
Diana BrightmanAbrahamson Pediatric Eye Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Eniolami DosunmuAbrahamson Pediatric Eye Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.ORCID 0000-0002-1992-2203
Shailja TibrewalShroff's Charity Eye Hospital, New Delhi, India.
Savleen KaurDepartment of Ophthalmology, Pediatrics and Dentistry, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Anupriya KaurDepartment of Ophthalmology, Pediatrics and Dentistry, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Raj Kumar VermaDepartment of Ophthalmology, Pediatrics and Dentistry, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Alejandra G de Alba CampomanesDepartment of Ophthalmology, University of California San Francisco, San Francisco, USA.
Virginia UtzAbrahamson Pediatric Eye Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Anne M SlavotinekAbrahamson Pediatric Eye Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.ORCID 0009-0004-4069-7778
Cynthia CurryDepartment of Genetic Medicine, University of California, San Francisco, Fresno, California, USA.

Funding

Genomic analysis of microphthalmia, anophthalmia and colobomaR01EY032976 · NEI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI SLAVOTINEK, ANNE M. · 2021 to 2023
$1.3M
NEI NIH HHSNEI NIH HHS R01 EY032976NIH HHS
6 · The paper itself

Abstract

Nance-Horan syndrome (NHS; OMIM 302350) is a rare, X-linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade-shaped incisors, facial anomalies, and intellectual disability. It is caused by deleterious loss of function variants or deletions involving the NHS gene at Xp22.13. Heterozygous females often present with similar, but less severe features than affected males. We describe a relatively large cohort of eight new patients with NHS, including two patients with microdeletions including NHS who had classical presentations, and provide detailed descriptions of the clinical findings for both affected males and females. The spectrum of clinical features in NHS is variable and can be mild, in particular for females, and the condition can remain undiagnosed. This report contributes to the delineation of the phenotypic and genotypic findings associated with this condition.

Indexed as

CataractGenetic Diseases, X-LinkedIntellectual DisabilityPhenotypeTooth AbnormalitiesAdolescentAdultChildChild, PreschoolChromosomes, Human, XFemaleHeterozygoteHumansInfantMaleMembrane ProteinsMembrane ProteinsNHS protein, humanNuclear Proteinscongenital cataractsNance‐Horan syndromeNHS geneX‐linked inheritance

Identifiers

PMID41236159
PMCPMC12705071

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Registered trials

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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.