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Prominent and regressive brain developmental disorders associated with nance-horan syndrome

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. Green open access

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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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