ArticleScientific reports2018
A novel small deletion in the NHS gene associated with Nance-Horan syndrome.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 15 citations in OpenAlex.
- The Nance-Horan syndrome protein NHS regulates cell migration persistence by organizing WAVE and N-WASP nucleation-promoting factor complexes.The Journal of biological chemistry · 2026Article
- Nance-Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes.American journal of medical genetics. Part A · 2026Article
- Distinct Pathogenic Mechanisms of Two Novel NHS Mutations Identified in Chinese Han Families With Nance-Horan Syndrome.Human mutation · 2026Article
- Genetic Landscape of Congenital Cataracts in a Swiss Cohort: Addressing Diagnostic Oversights in Nance-Horan Syndrome.Biomedicines · 2025Article
- Identification of a novel single nucleotide deletion in the NHS causing Nance-Horan syndrome.BMC ophthalmology · 2025Article
- Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families.BMC oral health · 2023Article
- Changes in DNA methylation hallmark alterations in chromatin accessibility and gene expression for eye lens differentiation.Epigenetics & chromatin · 2022Article
- A novel Nance-Horan syndrome mutation identified by next-generation sequencing in a Chinese family.International journal of ophthalmology · 2022Article
- Article
- Identification of Differentially Methylated CpG Sites in Fibroblasts from Keloid Scars.Biomedicines · 2020Article
- Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome.BMC medical genetics · 2019Article
- Congenital cataract: a guide to genetic and clinical management.Therapeutic advances in rare diseaseReview
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Nance-Horan syndrome is a rare X-linked recessive inherited disease with clinical features including severe bilateral congenital cataracts, characteristic facial and dental abnormalities. Data from Chinese Nance-Horan syndrome patients are limited. We assessed the clinical manifestations of a Chinese Nance-Horan syndrome pedigree and identified the genetic defect. Genetic analysis showed that 3 affected males carried a novel small deletion in NHS gene, c.263_266delCGTC (p.Ala89TrpfsTer106), and 2 female carriers were heterozygous for the same variant. All 3 affected males presented with typical Nance-Horan syndrome features. One female carrier displayed lens opacities centered on the posterior Y-suture in both eyes, as well as mild dental abnormalities. We recorded the clinical features of a Chinese Nance-Horan syndrome family and broadened the spectrum of mutations in the NHS gene.
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