In:
Birth Defects Research, Wiley, Vol. 109, No. 11 ( 2017-07-03), p. 866-868
Abstract:
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 NHS 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 NHS locus have been reported, suggesting a possible pathogenic role of the flanking genes. Methods 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. Results The microdeletion harbors the NHS , SCLML1 , and RAI2 genes and results in a phenotype consistent with NSH syndrome and developmental delay. Conclusion 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.
Type of Medium:
Online Resource
ISSN:
2472-1727
,
2472-1727
DOI:
10.1002/bdr2.v109.11
Language:
English
Publisher:
Wiley
Publication Date:
2017
detail.hit.zdb_id:
2884154-2
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