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A novel Xp22.13 microdeletion in Nance‐Horan syndrome
Gespeichert in:
Personen und Körperschaften: | , , , , , , |
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Titel: |
A novel Xp22.13 microdeletion in Nance‐Horan syndrome |
In: | Birth Defects Research, 109, 2017, 11, S. 866-868 |
veröffentlicht: |
Wiley
|
Umfang: | 866-868 |
ISSN: |
2472-1727 |
DOI: | 10.1002/bdr2.1032 |
Zusammenfassung: | <jats:sec><jats:title>Background</jats:title><jats:p>Nance‐Horan syndrome (NHS) is a rare X‐linked developmental disorder characterized by congenital cataract, dental anomalies and facial dysmorphisms. Notably, up to 30% of NHS patients have intellectual disability and a few patients have been reported to have congenital cardiac defects. Nance‐Horan syndrome is caused by mutations in the <jats:italic>NHS</jats:italic> gene that is highly expressed in the midbrain, retina, lens, tooth, and is conserved across vertebrate species. Although most pathogenic mutations are nonsense mutations, a few genomic rearrangements involving <jats:italic>NHS</jats:italic> locus have been reported, suggesting a possible pathogenic role of the flanking genes.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>Here, we report a microdeletion of 170,6 Kb at Xp22.13 (17.733.948‐17.904.576) (GRCh37/hg19), detected by array‐based comparative genomic hybridization in an Italian boy with NHS syndrome.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>The microdeletion harbors the <jats:italic>NHS</jats:italic>, <jats:italic>SCLML1</jats:italic>, and <jats:italic>RAI2</jats:italic> genes and results in a phenotype consistent with NSH syndrome and developmental delay.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>We compare our case with the previous Xp22.13 microdeletions and discuss the possible pathogenetic role of the flanking genes. Birth Defects Research 109:866–868, 2017. © 2017 Wiley Periodicals, Inc.</jats:p></jats:sec> |
Format: | E-Article |
Quelle: | Wiley (CrossRef) |
Sprache: | Englisch |