Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein –Taybi Syndrome kids with high frequency of polydactyly

ConclusionWe reported the genetic and clinical information of 18 RSTS patients from Chinese population with novelCREBBP variants. This study provides a new insight into RSTS and illustrates the value of applying CES which increases the diagnostic yields and enhances the clinical care of RSTS patients.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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Discussion We have found that, in the human genome, the promoter regions of ID-associated genes are uniquely enriched in MER41 LTRs. More specifically, nine ID-associated genes that are putatively important in cognitive evolution exhibit MER41 LTRs in their promoter regions. As more than 100 families of HERV are integrated into our genome, it was important to determine whether our findings are specific to MER41 and to ID-associated genes, and if so to what extent. Among the 133 families of HERV explored here, MER41 is the only family whose LTRs were found with statistically high frequency in the promoter regions of ID-ass...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
Conclusions The Cochrane reviews do not provide clear conclusions regarding the effectiveness of TMS and tDCS against adult chronic pain, although small benefits appear to have been observed. However, the authors point out many biases and important heterogeneities of these studies (30). At the moment, it is not possible to establish useful guidelines on the use of TMS and tDCS in the treatment of pediatric migraine and, in general, for pediatric pain treatment. However, adult studies as well as preliminary pediatric reports show that the application of these techniques is safe, with few side effects, potentially low cost...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
We report on 2 brothers, aged 7.6 and 20 years, presenting with cognitive impairment, epilepsy, autistic features, hearing loss, and obesity. Array-CGH analysis demonstrated 2 rare CNVs in both siblings: a paternally inherited microdeletion of ∼145 kb at 3p22.1, disrupting theULK4 gene, and a maternally inherited microduplication of ∼117 kb at Xq21.1 including only theBRWD3 gene. As already described for other recurrent syndromes with variable phenotype, these findings are challenging in genetic counseling because of an evident variable penetrance. We discuss the possible correlations between the clinical phenotype...
Source: Cytogenetic and Genome Research - Category: Genetics & Stem Cells Source Type: research
We report on 2 brothers, aged 7.6 and 20 years, presenting with cognitive impairment, epilepsy, autistic features, hearing loss, and obesity. Array-CGH analysis demonstrated 2 rare CNVs in both siblings: a paternally inherited microdeletion of ∼145 kb at 3p22.1, disrupting theULK4 gene, and a maternally inherited microduplication of ∼117 kb at Xq21.1 including only theBRWD3 gene. As already described for other recurrent syndromes with variable phenotype, these findings are challenging in genetic counseling because of an evident variable penetrance. We discuss the possible correlations between the clinical phenotype...
Source: Cytogenetic and Genome Research - Category: Genetics & Stem Cells Source Type: research
Authors: Bădescu GM, Fîlfan M, Sandu RE, Surugiu R, Ciobanu O, Popa-Wagner A Abstract Neurodevelopmental disorders such as attention deficit hyperactivity disorder and autism represent a significant economic burden, which justify vigorous research to uncover its genetics and developmental clinics for a diagnostic workup. The urgency of addressing attention deficit hyperactivity disorder comorbidities is seen in the chilling fact that attention deficit hyperactivity disorder (ADHD), mood disorders, substance use disorders and obesity each increase the risk for mortality. However, data about comorbidity is mai...
Source: Romanian Journal of Morphology and Embryology - Category: Journals (General) Tags: Rom J Morphol Embryol Source Type: research
Co-morbid conditions frequently occur in pediatric headaches and may significantly affect their management. Co-morbidities that have been associated with pediatric headaches include attention-deficit/hyperactivity disorder, autism, developmental disabilities, depression, anxiety, epilepsy, obesity, infantile colic, atopic disorders, inflammatory bowel disease and irritable bowel syndrome. The goal of this review is to elucidate common comorbidities associated with pediatric headache, thereby empowering child neurologists to identify common triggers and tailor management strategies that address headache and associated comorbidities.
Source: Seminars in Pediatric Neurology - Category: Neurology Authors: Source Type: research
Comorbid conditions frequently occur in pediatric headaches and may significantly affect their management. Comorbidities that have been associated with pediatric headaches include attention-deficit or hyperactivity disorder, autism, developmental disabilities, depression, anxiety, epilepsy, obesity, infantile colic, atopic disorders, inflammatory bowel disease, and irritable bowel syndrome. The goal of this article is to elucidate common comorbidities associated with pediatric headache, thereby empowering child neurologists to identify common triggers and tailor management strategies that address headache and associated comorbidities.
Source: Seminars in Pediatric Neurology - Category: Neurology Authors: Source Type: research
The importance of a precise molecular diagnosis for children with intellectual disability, autism spectrum disorder and epilepsy has become widely accepted and genetic testing is an integral part of the diagnostic evaluation of these children. In contrast, children with an isolated speech or language disorder are not often genetically evaluated, despite recent evidence supporting a role for genetic factors in the aetiology of these disorders. Several chromosomal copy number variants and single gene disorders associated with abnormalities of speech and language have been identified. Individuals without a precise genetic dia...
Source: Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Editor's choice, Epilepsy and seizures, Obesity (nutrition), Reproductive medicine Cognitive and behavioural genetics Source Type: research
AimThe aim of this study was to describe the incidence of morbidities and the prevalence of medical prescriptions in a large Down syndrome population. MethodA retrospective cohort study was carried out using the UK Clinical Practice Research Datalink from 1 January 2004 to 31 December 2013. We matched individuals with Down syndrome to randomly selected control participants by practice site, sex, birth year, and recording period. ResultsA total of 6430 individuals with Down syndrome (3009 females, 3421 males) and 19 176 controls (8966 females, 10 210 males) were included in the study. The incidence of cardiovascul...
Source: Developmental Medicine and Child Neurology - Category: Child Development Authors: Tags: Original Article Source Type: research
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