ICNC Abstracts, ICNC 2018

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Neurodevelopmental disorders and disordered chromatin remodeling: the lessons from Rubinstein–Taybi syndrome spectrum and clinical presentation of a Tunisian case revealed on behalf of bilateral congenital glaucoma and other ocular abnormalities
Nouha Abdelmoula Bouayed, Sonda Kammoun, Fatma Abid, Wafa Aloulou, Samir Aloulou

Last modified: 2018-09-09

Abstract


Currently, it is becoming essential to understand how epigenetic mechanisms control gene expression during neurodevelopment. Recently, it has been demonstrated that mutations of genes involved in epigenetic mechanism are linked to human disorders including increased number of multimalformative syndromes. Rubinstein-Taybi entity is one of these syndromes that are associated with epigenetic alterations and which arise as a consequence of disordered chromatin remodeling. The diagnosis of this syndrome is essentially clinic based on frequent clinical characteristics. Moderate intellectual disability is typical. IQ scores range from 25 to 79 with an average between 36 and 51.Mutated patients (in CREBBP gene ’55 %’ or EP300 gene ‘8 %’) do not differ clinically from patients without a detectable mutation. Here, we report a 28-month-old Tunisian boy who was seen at our genetic counselling because of a syndromic presentation of bilateral congenital glaucoma. In addition to growth retardation, he had feeding problems and his developmental milestones were delayed. Psychomotor and language delays as well as behavioural problems were associated to typical Rubinstein-Taybi facial dysmorphisms and visceral malformations. Congenital glaucoma which is considered as a rare complication was the principal topic of consultation. It was associated to bilateral megalocornea and corneal oedema with opaqueness. Well description of clinical features of disordered chromatin remodeling syndromes is important for the demarcation of the diseasomes which provide new insight into the potential role of the implicated genes in human development in general and human neurodevelopment in particular.


Keywords


Disordered chromatin remodeling, Glaucoma, Neurodevelopment, Rubinstein-Taybi syndrome

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