Abstract
Nance-Horan syndrome is a rare X-linked developmental disorder characterized by bilateral congenital cataract, dental anomalies, facial dysmorphism, and intellectual disability. Here, we identify a patient with Nance-Horan syndrome caused by a new nonsense NHS variant. In addition, the patient presented congenital diaphragmatic hernia. NHS gene expression in murine fetal diaphragm was demonstrated, suggesting a possible involvement of NHS in diaphragm development. Congenital diaphragmatic hernia could result from NHS loss of function in pleuroperitoneal fold or in somites-derived muscle progenitor cells leading to an impairment of their cells migration.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Animals
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Cataract / congenital*
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Cataract / genetics
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Cataract / pathology
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Codon, Nonsense
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Diaphragm / embryology
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Diaphragm / metabolism
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Genetic Diseases, X-Linked / genetics*
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Genetic Diseases, X-Linked / pathology
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Hernias, Diaphragmatic, Congenital / genetics*
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Hernias, Diaphragmatic, Congenital / pathology
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Humans
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Infant, Newborn
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Loss of Function Mutation
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Male
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Membrane Proteins
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Mice
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Nuclear Proteins / genetics
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Nuclear Proteins / metabolism
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Phenotype*
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Tooth Abnormalities / genetics*
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Tooth Abnormalities / pathology
Substances
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Codon, Nonsense
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Membrane Proteins
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NHS protein, human
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Nuclear Proteins