scholarly journals Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability

2018 ◽  
Vol 176 (4) ◽  
pp. 973-979 ◽  
Author(s):  
Wenmiao Zhu ◽  
Jianli Li ◽  
Stella Chen ◽  
Jinglan Zhang ◽  
Francesco Vetrini ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
De Novo ◽  
Novel Mutations ◽  
Moderate Intellectual Disability

scholarly journals De Novo 1q21.3q22 Duplication Revaluation in a “Cold” Complex Neuropsychiatric Case with Syndromic Intellectual Disability

Genes ◽  
2021 ◽  
Vol 12 (4) ◽  
pp. 511
Author(s):  
Roberta Milone ◽  
Roberta Scalise ◽  
Rosa Pasquariello ◽  
Stefano Berloffa ◽  
Ivana Ricca ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
De Novo ◽  
Spastic Paraparesis ◽  
Genetic Diagnosis ◽  
Pathogenic Role ◽  
Moderate Intellectual Disability ◽  
Contiguous Gene ◽  
Generation Sequencing ◽  
Duplication Syndrome

Syndromic intellectual disability often obtains a genetic diagnosis due to the combination of first and next generation sequencing techniques, although their interpretation may require revaluation over the years. Here we report on a composite neuropsychiatric case whose phenotype includes moderate intellectual disability, spastic paraparesis, movement disorder, and bipolar disorder, harboring a 1.802 Mb de novo 1q21.3q22 duplication. The role of this duplication has been reconsidered in the light of negativity of many other genetic exams, and of the possible pathogenic role of many genes included in this duplication, potentially configuring a contiguous gene-duplication syndrome.

scholarly journals A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Giada Moresco ◽  
Jole Costanza ◽  
Carlo Santaniello ◽  
Ornella Rondinone ◽  
Federico Grilli ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Clinical Presentation ◽  
De Novo ◽  
Clinical Signs ◽  
Missense Variant ◽  
Psychomotor Development ◽  
Helicase Domain ◽  
Protein Activity ◽  
Mrna Metabolism ◽  
Pathogenic Variants

Abstract Background De novo pathogenic variants in the DDX3X gene are reported to account for 1–3% of unexplained intellectual disability (ID) in females, leading to the rare disease known as DDX3X syndrome (MRXSSB, OMIM #300958). Besides ID, these patients manifest a variable clinical presentation, which includes neurological and behavioral defects, and abnormal brain MRIs. Case presentation We report a 10-year-old girl affected by delayed psychomotor development, delayed myelination, and polymicrogyria (PMG). We identified a novel de novo missense mutation in the DDX3X gene (c.625C > G) by whole exome sequencing (WES). The DDX3X gene encodes a DEAD-box ATP-dependent RNA-helicase broadly implicated in gene expression through regulation of mRNA metabolism. The identified mutation is located just upstream the helicase domain and is suggested to impair the protein activity, thus resulting in the altered translation of DDX3X-dependent mRNAs. The proband, presenting with the typical PMG phenotype related to the syndrome, does not show other clinical signs frequently reported in presence of missense DDX3X mutations that are associated with a most severe clinical presentation. In addition, she has brachycephaly, never described in female DDX3X patients, and macroglossia, that has never been associated with the syndrome. Conclusions This case expands the knowledge of DDX3X pathogenic variants and the associated DDX3X syndrome phenotypic spectrum.

The Use of Response Prompting and Frames for Teaching Sentence Writing to Students With Moderate Intellectual Disability

2016 ◽  
Vol 33 (3) ◽  
pp. 142-149 ◽  
Author(s):  
Robert Pennington ◽  
Allison Flick ◽  
Kendra Smith-Wehr
Keyword(s):  
Intellectual Disability ◽  
Time Delay ◽  
Delay System ◽  
Constant Time Delay ◽  
Intervention Package ◽  
Time Delay System ◽  
Moderate Intellectual Disability ◽  
System Of Least Prompts ◽  
Response Prompting ◽  
Multiple Probe

In the current study, we examined the effects of response prompting strategies (i.e., constant time delay, system of least prompts) and frames on sentence writing for three participants, ages 7 to 12, with moderate intellectual disability. We used a concurrent multiple probe across behaviors design to evaluate the efficacy of the intervention package and posttest probes to assess generalized responding to untrained stimulation. During intervention, the teacher taught two students to construct sentences using selection-based software and another to generate handwritten responses across three different writing frames (i.e., I want _________, I see _____, The _____ is ______). Our findings suggest that the package was effective and produced variable levels of maintenance and generalized responding for all three participants.

Identification of a patient with intellectual disability and de novo 3.7Mb deletion supports the existence of a novel microdeletion syndrome in 2p14–p15

Gene ◽  
2013 ◽  
Vol 516 (1) ◽  
pp. 158-161 ◽  
Author(s):  
Miroslava Hancarova ◽  
Sarka Vejvalkova ◽  
Marie Trkova ◽  
Jana Drabova ◽  
Alzbeta Dleskova ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
De Novo ◽  
Microdeletion Syndrome

scholarly journals De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability

2013 ◽  
Vol 93 (1) ◽  
pp. 124-131 ◽  
Author(s):  
Anne Gregor ◽  
Martin Oti ◽  
Evelyn N. Kouwenhoven ◽  
Juliane Hoyer ◽  
Heinrich Sticht ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
De Novo ◽  
De Novo Mutations

IL1RAPL1 Gene Deletion in a Female Patient with Developmental Delay and Continuous Spike-Wave during Sleep

2021 ◽  
Author(s):  
Evan Jiang ◽  
Mark P. Fitzgerald ◽  
Katherine L. Helbig ◽  
Ethan M. Goldberg
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Synapse Formation ◽  
De Novo ◽  
Interleukin 1 ◽  
Autism Spectrum ◽  
Neurological Dysfunction ◽  
Behavioral Disorder ◽  
Clinical Genetic ◽  
Severe Intellectual Disability

AbstractInterleukin-1 receptor accessory protein-like 1 (IL1RAPL1) encodes a protein that is highly expressed in neurons and has been shown to regulate neurite outgrowth as well as synapse formation and synaptic transmission. Clinically, mutations in or deletions of IL1RAPL1 have been associated with a spectrum of neurological dysfunction including autism spectrum disorder and nonsyndromic X-linked developmental delay/intellectual disability of varying severity. Nearly all reported cases are in males; in the few reported cases involving females, the clinical presentation was mild or the deletion was identified in phenotypically normal carriers in accordance with X-linked inheritance. Using genome-wide microarray analysis, we identified a novel de novo 373 kb interstitial deletion of the X chromosome (Xp21.1-p21.2) that includes exons 4 to 6 of the IL1RAPL1 gene in an 8-year-old girl with severe intellectual disability and behavioral disorder with a history of developmental regression. Overnight continuous video electroencephalography revealed electrical status epilepticus in sleep (ESES). This case expands the clinical genetic spectrum of IL1RAPL1-related neurodevelopmental disorders and highlights a new genetic association of ESES.

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