A homozygous mutation inSLC1A4in siblings with severe intellectual disability and microcephaly

2015 ◽  
Vol 88 (1) ◽  
pp. E1-E4 ◽  
Author(s):  
M. Srour ◽  
F. F. Hamdan ◽  
Z. Gan-Or ◽  
D. Labuda ◽  
C. Nassif ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Homozygous Mutation ◽  
Severe Intellectual Disability

scholarly journals Adult male patient with severe intellectual disability caused by a homozygous mutation in the HNMT gene

2020 ◽  
Vol 13 (12) ◽  
pp. e235972
Author(s):  
Willem M A Verhoeven ◽  
Jos I M Egger ◽  
Paddy K C Janssen ◽  
Arie van Haeringen
Keyword(s):  
Intellectual Disability ◽  
Sleep Disturbances ◽  
Speech Development ◽  
Adolescent Male ◽  
Homozygous Mutation ◽  
Phenotypic Profile ◽  
Severe Intellectual Disability ◽  
Age Regression ◽  
General Improvement ◽  
The Central Nervous System

Histamine is involved in various physiological functions like sleep–wake cycle and stress regulation. The histamine N-methyltransferase (HNMT) enzyme is the only pathway for termination of histamine neurotransmission in the central nervous system. Experiments with HNMT knockout mice generated aggressive behaviours and dysregulation of sleep–wake cycles. Recently, seven members of two unrelated consanguineous families have been reported in whom two different missense HNMT mutations were identified. All showed severe intellectual disability, delayed speech development and mild regression from the age of 5 years without, however, any dysmorphisms or congenital abnormality. A diagnosis of mental retardation, autosomal recessive 51 was made. Here, we describe a severely mentally retarded adolescent male born from second cousins with a homozygous mutation in HNMT. His phenotypic profile comprised aggression, delayed speech, autism, sleep disturbances and gastro-intestinal problems. At early age, regression occurred. Treatment with hydroxyzine combined with a histamine-restricted diet resulted in significant general improvement.

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.

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