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.

Ophthalmic Genet 2018 Jan-Feb;39(1):56-62. Epub 2017 Sep 18.

c Department of Genetics , Hospital Infantil de México Federico Gómez , Mexico City , Mexico.

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.

Download full-text PDF

Source
http://dx.doi.org/10.1080/13816810.2017.1363245DOI Listing
March 2018

Publication Analysis

Top Keywords

nance-horan syndrome
16
nhs gene
12
balanced translocation
8
disrupts nhs
8
molecular analyses
4
cytogenetic molecular
4
manifesting nance-horan
4
syndrome cytogenetic
4
analyses demonstrated
4
46xtx1p2213q22 karyotype
4
imbalances detected
4
detected high-density
4
genomic imbalances
4
copy-number genomic
4
daughter manifesting
4
karyotype copy-number
4
demonstrated 46xtx1p2213q22
4
describe patients
4
severe features
4
features 30%
4

Similar Publications