Casto, C;
Dipasquale, V;
Ceravolo, I;
Gambadauro, A;
Aliberto, E;
Galletta, K;
Granata, F;
... Chimenz, R; + view all
(2021)
Prominent and regressive brain developmental disorders associated with nance-horan syndrome.
Brain Sciences
, 11
(9)
, Article 1150. 10.3390/brainsci11091150.
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Abstract
Nance-Horan syndrome (NHS) is a rare X-linked developmental disorder caused mainly by loss of function variants in the NHS gene. NHS is characterized by congenital cataracts, dental anomalies, and distinctive facial features, and a proportion of the affected individuals also present intellectual disability and congenital cardiopathies. Despite identification of at least 40 distinct hemizygous variants leading to NHS, genotype-phenotype correlations remain largely elusive. In this study, we describe a Sicilian family affected with congenital cataracts and dental anomalies and diagnosed with NHS by whole-exome sequencing (WES). The affected boy from this family presented a late regression of cognitive, motor, language, and adaptive skills, as well as broad behavioral anomalies. Furthermore, brain imaging showed corpus callosum anomalies and periven-tricular leukoencephalopathy. We expand the phenotypic and mutational NHS spectrum and review potential disease mechanisms underlying the central neurological anomalies and the potential neu-rodevelopmental features associated with NHS.
| Type: | Article |
|---|---|
| Title: | Prominent and regressive brain developmental disorders associated with nance-horan syndrome |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.3390/brainsci11091150 |
| Publisher version: | http://dx.doi.org/10.3390/brainsci11091150 |
| Language: | English |
| Additional information: | This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
| Keywords: | genotype; motor impairment; Nance-Horan syndrome; next-generation sequencing; congenital cataracts; dental anomalies; pediatric age |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10134371 |
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