Title |
Nance–Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature
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Published in |
Ophthalmic Genetics, September 2017
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DOI | 10.1080/13816810.2017.1363245 |
Pubmed ID | |
Authors |
Laura Gómez-Laguna, Alejandro Martínez-Herrera, Alejandra del Pilar Reyes-de la Rosa, Constanza García-Delgado, Karem Nieto-Martínez, Fernando Fernández-Ramírez, Tania Yanet Valderrama-Atayupanqui, Ariadna Berenice Morales-Jiménez, Judith Villa-Morales, Susana Kofman, Alicia Cervantes, Verónica Fabiola Morán-Barroso |
Abstract |
The Nance-Horan syndrome is an X-linked disorder characterized by congenital cataract, facial features, microcornea, microphthalmia, and dental anomalies; most of the cases are due to NHS gene mutations on Xp22.13. Heterozygous carrier females generally present less severe features, and up to 30% of the affected males have intellectual disability. We describe two patients, mother and daughter, manifesting Nance-Horan syndrome. The cytogenetic and molecular analyses demonstrated a 46,X,t(X;1)(p22.13;q22) karyotype in each of them. No copy-number genomic imbalances were detected by high-density microarray analysis. The mother had a preferential inactivation of the normal X chromosome; expression analysis did not detect any mRNA isoform of NHS. This is the first report of Nance-Horan syndrome due to a skewed X chromosome inactivation resulting from a balanced translocation t(X;1) that disrupts the NHS gene expression, with important implications for clinical presentation and genetic counseling. |
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Unknown | 2 | 100% |
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Scientists | 1 | 50% |
Members of the public | 1 | 50% |
Mendeley readers
Geographical breakdown
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Unknown | 20 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 3 | 15% |
Researcher | 2 | 10% |
Student > Postgraduate | 2 | 10% |
Professor > Associate Professor | 2 | 10% |
Student > Master | 1 | 5% |
Other | 2 | 10% |
Unknown | 8 | 40% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 6 | 30% |
Nursing and Health Professions | 2 | 10% |
Biochemistry, Genetics and Molecular Biology | 2 | 10% |
Agricultural and Biological Sciences | 2 | 10% |
Immunology and Microbiology | 1 | 5% |
Other | 0 | 0% |
Unknown | 7 | 35% |