Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes
Year: 2025
Type: article
Study design: Case Report
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.
DOI: 10.1002/ajmg.a.64289
Institutions: Turku University Hospital, Stanford Medicine, Stanford University, Cone Health, University of Colorado Denver, Wake Forest University Health Sciences, Wake Forest University, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Dr. Shroff’s Charity Eye Hospital, Post Graduate Institute of Medical Education and Research, University of California, San Francisco
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $4,710
OpenAlex ID: W4416226918