Chromosomal loss of 3q26.3-3q26.32, involving a partial neuroligin 1 deletion, identified by genomic microarray in a child with microcephaly, seizure disorder, and severe intellectual disability

2011 ◽  
Vol 158A (1) ◽  
pp. 159-165 ◽  
Author(s):  
Alison Millson ◽  
Danielle LaGrave ◽  
Mary J.H. Willis ◽  
Leslie R. Rowe ◽  
Elaine Lyon ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Seizure Disorder ◽  
Chromosomal Loss ◽  
Severe Intellectual Disability ◽  
Genomic Microarray

Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability

2013 ◽  
Vol 68 (3) ◽  
pp. 191-193 ◽  
Author(s):  
Joep de Ligt ◽  
Marjolein H. Willemsen ◽  
Bregje W. M. van Bon ◽  
Tjitske Kleefstra ◽  
Helger G. Yntema ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Exome Sequencing ◽  
Severe Intellectual Disability

Bullying and people with severe intellectual disability

2001 ◽  
Vol 45 (5) ◽  
pp. 407-415 ◽  
Author(s):  
C. Sheard ◽  
J. Clegg ◽  
P. Standen ◽  
J. Cromby
Keyword(s):  
Intellectual Disability ◽  
Severe Intellectual Disability

Access to Curricula in Three School Settings for Students with Severe Intellectual Disability

1992 ◽  
Vol 36 (3) ◽  
pp. 318-327 ◽  
Author(s):  
Carolyn Grbich ◽  
Stewart Sykes
Keyword(s):  
Intellectual Disability ◽  
Primary School ◽  
Primary Schools ◽  
Female Students ◽  
Special School ◽  
School Settings ◽  
Special Training ◽  
Severe Intellectual Disability ◽  
Educational Placements

The area of severe intellectual disability has received little attention in Australian research. This Victorian study examined the issue of access to curricula in post primary school and special school placements for a group of students with severe intellectual disability. Results from the investigation indicated: that parents were generally dissatisfied with the lack of choice available regarding educational placements and the lack of opportunity for them to contribute in a supportive manner to their daughter's/son's schooling: that teachers in post primary schools reported an urgent need for special training or for specialised staff to assist them with curricular modification: and that the female students in this group experienced disadvantage in several curricular areas.

RHOBTB2 p.Arg511Trp Mutation in Early Infantile Epileptic Encephalopathy-64: Review and Case Report

2021 ◽  
Author(s):  
J Fonseca ◽  
C Melo ◽  
C Ferreira ◽  
M Sampaio ◽  
R Sousa ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Status Epilepticus ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Epileptic Encephalopathy ◽  
Btb Domain ◽  
Pathogenic Variants ◽  
Severe Intellectual Disability ◽  
Whole Exome

AbstractEarly infantile epileptic encephalopathy-64 (EIEE 64), also called RHOBTB2-related developmental and epileptic encephalopathy (DEE), is caused by heterozygous pathogenic variants (EIEE 64; MIM#618004) in the Rho-related BTB domain-containing protein 2 (RHOBTB2) gene. To date, only 13 cases with RHOBTB2-related DEE have been reported. We add to the literature the 14th case of EIEE 64, identified by whole exome sequencing, caused by a heterozygous pathogenic variant in RHOBTB2 (c.1531C > T), p.Arg511Trp. This additional case supports the main features of RHOBTB2-related DEE: infantile-onset seizures, severe intellectual disability, impaired motor functions, postnatal microcephaly, recurrent status epilepticus, and hemiparesis after seizures.

Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans

2021 ◽  
Author(s):  
Nicole J Van Bergen ◽  
Katrina M Bell ◽  
Kirsty Carey ◽  
Russell Gear ◽  
Sean Massey ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Neurological Disorders ◽  
Promoter Region ◽  
Nuclear Pore ◽  
Valuable Insight ◽  
Amino Acid Deletion ◽  
Pathogenic Variants ◽  
Severe Intellectual Disability ◽  
Functional Analyses ◽  
Insight Into

Abstract The nuclear pore complex (NPC) is a multi-protein complex that regulates the trafficking of macromolecules between the nucleus and cytoplasm. Genetic variants in components of the NPC have been shown to cause a range of neurological disorders, including intellectual disability and microcephaly. Translocated promoter region, nuclear basket protein (TPR) is a critical scaffolding element of the nuclear facing interior of the NPC. Here we present two siblings with biallelic variants in TPR who present with a phenotype of microcephaly, ataxia and severe intellectual disability. The variants result in a premature truncation variant, and a splice variant leading to a 12-amino acid deletion respectively. Functional analyses in patient fibroblasts demonstrate significantly reduced TPR levels, and decreased TPR-containing NPC density. A compensatory increase in total NPC levels was observed, and decreased global RNA intensity in the nucleus. The discovery of variants that partly disable TPR function provide valuable insight into this essential protein in human disease, and our findings suggest that TPR variants are the cause of the siblings’ neurological disorder.

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