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Distinct Pathogenic Mechanisms of Two Novel NHS Mutations Identified in Chinese Han Families With Nance-Horan Syndrome.

Human mutation - 1 Jan 2026

Li Li, Song Jiaxi, Qin Meiling, Zhou Shuyu, Liu Jingfan, Zheng Guangying

Abstract excerpt

Nance-Horan syndrome (NHS) is a rare X-linked genetic disorder characterized by congenital cataracts, dental anomalies, and neurodevelopmental impairments, caused by mutations in the NHS gene. In this study, two novel NHS mutations, c.3847C>T and c.2519_2520del, were identified in two unrelated Chinese Han families, and their pathogenic molecular mechanisms were elucidated. Functional analyses revealed that the...

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Source

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Identifiers

PMID: 42253502
DOI: 10.1155/humu/3739907
PMCID: PMC13240491

Genes

NHS
ALDH3A1
BAX
COL4A1
GPX4
MMP9
PGC
SOD2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Distinct Pathogenic Mechanisms of Two Novel NHS Mutations Identified in Chinese Han Families With Nance-Horan Syndrome.PMID 42253502Read ↗

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Identification of a novel NHS mutation in a Chinese family with Nance-Horan syndrome.Semantic proximity Read ↗

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Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families.Semantic proximity Read ↗

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A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family.Semantic proximity Read ↗

Identification of Novel Variants in the NHS in Four Turkish Patients With Nance-Horan Syndrome.Semantic proximity Read ↗

Erratum to: Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencingSemantic proximity Read ↗

A Turkish family with Nance-Horan Syndrome due to a novel mutation.Semantic proximity Read ↗

[Identification of a novel variant of NHS gene underlying Nance-Horan syndrome].Semantic proximity Read ↗

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

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