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

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.

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Publication Details

Journal
American Journal of Medical Genetics Part A
Published
2025-11-14
DOI
https://doi.org/10.1002/ajmg.a.64289
Primary Topic
Connexins and lens biology
Type
article
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article

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

Chad Haldeman‐Englert, Anne Slavotinek, Patrick P. Koty, Eniolami O. Dosunmu et al.
American Journal of Medical Genetics Part A
Connexins and lens biology
article

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

Chad Haldeman‐Englert, Anne Slavotinek, Patrick P. Koty, Eniolami O. Dosunmu, Marja Hietala, Virginia Miraldi Utz, Diana S. Brightman, Maria K. Haanpää, Shailja Tibrewal, Savleen Kaur, Raj Kumar Verma, Anupriya Kaur, Alejandra G. de Alba Campomanes, Cynthia J. Curry, Melisa S. Tanverdi
article en

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.

American Journal of Medical Genetics Part AVol. 200(3)
Cincinnati Children's Hospital Medical Center (US), Cone Health (US), University of California, San Francisco (US), University of Colorado Boulder (US), Turku University Hospital (FI), University of Colorado System (US), Advanced Genetic Systems (United States) (US), Dr. Shroff’s Charity Eye Hospital (IN), Stanford Medicine (US), Post Graduate Institute of Medical Education and Research (IN), Wake Forest University (US), California State University, Fresno (US), University of San Francisco (US), University of Cincinnati Medical Center (US), University of Colorado Denver (US)
Openalex Percentile: Top 69%
Connexins and lens biology
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