Brain Sciences (Aug 2021)
Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome
- Celeste Casto,
- Valeria Dipasquale,
- Ida Ceravolo,
- Antonella Gambadauro,
- Emanuela Aliberto,
- Karol Galletta,
- Francesca Granata,
- Giorgia Ceravolo,
- Emanuela Falzia,
- Antonella Riva,
- Gianluca Piccolo,
- Maria Concetta Cutrupi,
- Pasquale Striano,
- Andrea Accogli,
- Federico Zara,
- Gabriella Di Rosa,
- Eloisa Gitto,
- Elisa Calì,
- Stephanie Efthymiou,
- Vincenzo Salpietro,
- Henry Houlden,
- Roberto Chimenz
Affiliations
- Celeste Casto
- Department of Human Pathology in Adult and Developmental Age “Gaetano Barresi”, Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy
- Valeria Dipasquale
- Department of Human Pathology in Adult and Developmental Age “Gaetano Barresi”, Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy
- Ida Ceravolo
- Unit of Ophthalmology, Department of Clinical and Experimental Medicine, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy
- Antonella Gambadauro
- Department of Human Pathology in Adult and Developmental Age “Gaetano Barresi”, Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy
- Emanuela Aliberto
- Casa di Cura la Madonnina, Via Quadronno 29, 20122 Milano, Italy
- Karol Galletta
- Department of Biomedical, Dental Science and Morphological and Functional Images, Neuroradiology Unit, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy
- Francesca Granata
- Department of Biomedical, Dental Science and Morphological and Functional Images, Neuroradiology Unit, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy
- Giorgia Ceravolo
- Department of Human Pathology in Adult and Developmental Age “Gaetano Barresi”, Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy
- Emanuela Falzia
- Azienza Ospedaliera di Cosenza, Via San Martino, 87100 Cosenza, Italy
- Antonella Riva
- Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto “Giannina Gaslini”, Via Gerolamo Gaslini 5, 16147 Genoa, Italy
- Gianluca Piccolo
- Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto “Giannina Gaslini”, Via Gerolamo Gaslini 5, 16147 Genoa, Italy
- Maria Concetta Cutrupi
- Department of Human Pathology in Adult and Developmental Age “Gaetano Barresi”, Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy
- Pasquale Striano
- Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto “Giannina Gaslini”, Via Gerolamo Gaslini 5, 16147 Genoa, Italy
- Andrea Accogli
- Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Largo Paolo Daneo 3, 16132 Genoa, Italy
- Federico Zara
- Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Largo Paolo Daneo 3, 16132 Genoa, Italy
- Gabriella Di Rosa
- Child Neurology and Neuropsychiatry Unit, Department of Human Pathology in Adult and Developmental Age “Gaetano Barresi”, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy
- Eloisa Gitto
- Neonatal and Pediatric Intensive Care Unit, Department of Human Pathology in Adult and Developmental Age “Gaetano Barresi”, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy
- Elisa Calì
- Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Gower Street, London WC1E 6BT, UK
- Stephanie Efthymiou
- Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Gower Street, London WC1E 6BT, UK
- Vincenzo Salpietro
- Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto “Giannina Gaslini”, Via Gerolamo Gaslini 5, 16147 Genoa, Italy
- Henry Houlden
- Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Gower Street, London WC1E 6BT, UK
- Roberto Chimenz
- Unit of Pediatric Nephrology and Dialysis, Department of Human Pathology in Adult and Developmental Age “Gaetano Barresi, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy
- DOI
- https://doi.org/10.3390/brainsci11091150
- Journal volume & issue
-
Vol. 11,
no. 9
p. 1150
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 periventricular leukoencephalopathy. We expand the phenotypic and mutational NHS spectrum and review potential disease mechanisms underlying the central neurological anomalies and the potential neurodevelopmental features associated with NHS.
Keywords
- genotype
- motor impairment
- Nance-Horan syndrome
- next-generation sequencing
- congenital cataracts
- dental anomalies
