Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability

Mari, Francesca; Marozza, Annabella; Mencarelli, Maria Antonietta; Rizzo, Caterina Lo; Fallerini, Chiara; Dosa, Laura; Marco, Chiara Di; Carignani, Giulia; Baldassarri, Margherita; Cianci, Paola; Vivarelli, R; Vascotto, Marina; Grosso, Salvatore; Rubegni, Pietro; Caffarelli, Carla; Pretegiani, Elena; Fimiani, Michele; Garavelli, Livia; Cristofoli, Francesca; Vermeesch, Joris Robert; Nuti, Ranuccio; Dotti, Maria Teresa; Balestri, Paolo; Hayek, Joussef; Selicorni, Angelo; Renieri, Alessandra

doi:10.1016/j.braindev.2014.08.009

Cited by 34 publications

(34 citation statements)

References 14 publications

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“…Patient 7 reported by Mari et al . also has a domain VI mutation p.Ala1156Pro and has absent speech with seizures. Our patient has a mutation in the same region with milder ID and resolution of seizures.…”

Section: Discussionmentioning

confidence: 99%

“…SMARCA2 is part of the SWI/SNF‐related ATP‐dependent chromatin remodeling complexes and plays an important role in gene expression and neural development . Given that the median patient age in the literature is 10 years, little data are available on the long‐term evolution of NCBRS . The original reported patient died at 33 years from status epilepticus with history of worsening motor and language function .…”

Section: Introductionmentioning

confidence: 99%

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The evolving features of Nicolaides–Baraitser syndrome – a clinical report of a 20‐year follow‐up

Ejaz

Babul‐Hirji

Chitayat

2016

Clinical Case Reports

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

The evolving features of Nicolaides–Baraitser syndrome – a clinical report of a 20‐year follow‐up

Ejaz

Babul‐Hirji

Chitayat

2016

Clinical Case Reports

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“…The authors suggested that patients with 2/3 major features and at least two minor features should be tested for ARID1B gene mutations [Santen et al, ]. Mari et al [] suggested that other hand and feet anomalies, including broadening of distal phalanges and broad hallux, might be present in this syndrome [Mari et al, ]. All reported cases so far have been sporadic suggesting high rates of new mutations in this gene [Santen et al, ].…”

Section: Discussionmentioning

confidence: 99%

Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings

Ben-Salem

Sobreira

Akawi

et al. 2015

American J of Med Genetics Pt A

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The gene encoding the AT-rich interaction domain-containing protein 1B (ARID1B) has recently been shown to be one of the most frequently mutated genes in patients with intellectual disability (ID). The phenotypic spectrums associated with variants in this gene vary widely ranging for mild to severe nonspecific ID to Coffin–Siris syndrome. In this study, we evaluated three children from a consanguineous Emirati family affected with ID and dysmorphic features. Genomic DNA from all affected siblings was analyzed using CGH array and whole-exome sequencing (WES). Based on a recessive mode of inheritance, homozygous or compound heterozygous variants shared among all three affected children could not be identified. However, further analysis revealed a heterozygous variant (c.4318C>T; p.Q1440*) in the three affected children in an autosomal dominant ID causing gene, ARID1B. This variant was absent in peripheral blood samples obtained from both parents and unaffected siblings. Therefore, we propose that the most likely explanation for this situation is that one of the parents is a gonadal mosaic for the variant. To the best of our knowledge, this is the first report of a gonadal mosaicism inheritance of an ARID1B variant leading to familial ID recurrence.

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“…This suggests that in some contexts, loss of the SWI/SNF complex may be associated with neurodegeneration or neuronal cell death. There is currently no indication that ID associated SWI/SNF disorders have a neurodegenerative component 20,51,52 , however, this cannot be ruled out as ID is typically diagnosed at a very young age. Interestingly, mutations in the human SWI/SNF gene SS18L1 have been implicated in amyotrophic lateral sclerosis 53 , a neurodegenerative disorder characterized by loss of motor neurons.…”

Section: A Role For the Bap Complex In Age Dependent Neuron Survivalmentioning

confidence: 99%

Systematic functional characterization of the intellectual disability-associated SWI/SNF complex reveals distinct roles for the BAP and PBAP complexes in post-mitotic memory forming neurons of theDrosophilamushroom body

Chubak

Stone

Raun

et al. 2018

Preprint

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Technology has led to rapid progress in the identification of genes involved in neurodevelopmental disorders like intellectual disability (ID), but our functional understanding of the causative genes is lagging. Here, we show that the SWI/SNF chromatin remodeling complex is one of the most overrepresented cellular components disrupted in ID. We systematically investigated the role of individual subunits of this large protein complex in post-mitotic memory forming neurons of the Drosophila mushroom body (MB). Using this approach, we have identified novel differential roles for the two prominent conformations of the Drosophila SWI/SNF complex, known as BAP and PBAP. The PBAP conformation is required post-mitotically for remodeling of the MB  neurons during morphogenesis and is essential for both short and long-term memory. In contrast, the BAP conformation appears to preferentially effect long-term memory and is associated with  neuron survival. Our results suggest that different subunits of the SWI/SNF complex may influence learning and memory through diverse and distinct roles in regulating structural plasticity, survival, and functionality of postmitotic neurons. This study provides novel insight into the neuronal function of individual SWI/SNF subunits and will serve as a basis for understanding SWI/SNF-mediated gene regulatory mechanisms in post-mitotic neurons.

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Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability

Cited by 34 publications

References 14 publications

The evolving features of Nicolaides–Baraitser syndrome – a clinical report of a 20‐year follow‐up

The evolving features of Nicolaides–Baraitser syndrome – a clinical report of a 20‐year follow‐up

Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings

Systematic functional characterization of the intellectual disability-associated SWI/SNF complex reveals distinct roles for the BAP and PBAP complexes in post-mitotic memory forming neurons of theDrosophilamushroom body

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