ArticleEuropean journal of human genetics : EJHG2011
The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly.
Article in European journal of human genetics : EJHG, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Genetic Landscape of Congenital Cataracts in a Swiss Cohort: Addressing Diagnostic Oversights in Nance-Horan Syndrome.Biomedicines · 2025Article
- Allelic and dosage effects of NHS in X-linked cataract and Nance-Horan syndrome: a family study and literature review.Molecular cytogenetics · 2021Article
- Clinical and genetic findings in patients with congenital cataract and heart diseases.Orphanet journal of rare diseases · 2021Article
- Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?European journal of human genetics : EJHG · 2018Article
- A novel small deletion in the NHS gene associated with Nance-Horan syndrome.Scientific reports · 2018Article
- Interpreting functional effects of coding variants: challenges in proteome-scale prediction, annotation and assessment.Briefings in bioinformatics · 2016Review
- Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing.Journal of Zhejiang University. Science. B · 2014Article
- A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach.Molecular cytogenetics · 2014Article
- Screening for intellectual disability using high-resolution CMA technology in a retrospective cohort from Central Brazil.PloS one · 2014Article
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5 authors.
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Abstract
Nance-Horan Syndrome (NHS) or X-linked cataract-dental syndrome is a disease of unknown gene action mechanism, characterized by congenital cataract, dental anomalies, dysmorphic features and, in some cases, mental retardation. We performed linkage analysis in a Tunisian family with NHS in which affected males and obligate carrier female share a common haplotype in the Xp22.32-p11.21 region that contains the NHS gene. Direct sequencing of NHS coding exons and flanking intronic sequences allowed us to identify the first missense mutation (P551S) and a reported SNP-polymorphism (L1319F) in exon 6, a reported UTR-SNP (c.7422 C>T) and a novel one (c.8239 T>A) in exon 8. Both variations P551S and c.8239 T>A segregate with NHS phenotype in this family. Although truncations, frame-shift and copy number variants have been reported in this gene, no missense mutations have been found to segregate previously. This is the first report of a missense NHS mutation causing NHS phenotype (including cardiac defects). We hypothesize also that the non-reported UTR-SNP of the exon 8 (3'-UTR) is specific to the Tunisian population.
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