...). However, the physiopathology of STXBP1 pathogenic variants is not yet fully understood. Case Presentation: Herein, we report a patient presenting intellectual disability, early onset seizures, and autism. Clinical exome sequencing identified a novel monoallelic splice pathogenic variant STXBP1...

... to be clinically recognizable. Case Presentation: A nine-year-old male with autism spectrum disorder was referred for genetic evaluation. On examination, he had relative macrocephaly and frontal prominence. Whole exome sequencing revealed a de novo c.1225 C>T: p. (R409W) variant in exon 9 of the EEF2 gene...

..., instructions or products referred to in the content or advertisements. 2023 Intellectual disability Microcephaly Autism Exome sequencing Array CGH TRAPPC9 Intellectual disability (ID) affects approximately 1–3% of the general population and is a major socioeconomic problem [Leonard and Wen...

...Gozde Uzunyayla-Inci; Ertugrul Kiykim; Tanyel Zubarioglu; Gözde Yeşil; CIGDEM AKTUGLU ZEYBEK Background: Autism spectrum disorder (ASD) is used to describe individuals with a specific combination of disorders in social communication and repetitive behaviors, highly restricted interests...

... associated with autosomal recessive microcephaly with chorioretinopathy. However, little is known about the genotype-phenotype characteristics of this disorder. Here, we describe a 5-year-old male patient with autism and a normal occipitofrontal circumference. No retinal abnormalities were observed. Brain...

... with features of Prader Willi syndrome (PWS). We report 2 malesiblings with maternally inherited duplication of Xq21.1q21.31 who demonstrate a variable phenotype. The proband has Prader Willi-like features such as global developmental delay, autism, obesity, short hands, and small genitalia with a history...

... or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. EBF3 Autism ADHD Neuroimaging Tractography Loss-of-function EBF3 mutations have been associated with an autosomal dominant neurodevelopmental disorder. Most affected...

...Gül Ünsel Bolat; Hilmi Bolat Copy number variations (CNVs) have been implied in the etiology of autism spectrum disorder (ASD), and microarray-based techniques are performed as a first-step genetic test. Our aim was to present clinical features and CNV profiles of patients with ASD...

... brain malformation, seizure history, diagnosis of autism spectrum disorder, and other features. This case series expands the natural history of TUBB2A -related tubulinopathy while describing the presentation of a novel, pathogenic, missense variant in 3 patients. TUBB2A -related tubulinopathy...

... variations Deletion syndrome Dysmorphology FISH Genotype-phenotype correlation Mosaicism Array CGH Autism Chromosomal microarray analysis A 14-year-old girl was referred to the Trakya University Medical Genetics Department because of autism spectrum disorder with behavior and anxiety disorders...

...Gilles Droogmans; Ann Swillen; Griet Van Buggenhout Phelan-McDermid syndrome (PMS; also referred to as 22q13.3 deletion syndrome) is a congenital condition due to a microdeletion in the SHANK3 gene. Cognitive and communicative deficits as well as behaviour in the autism spectrum are often noticed...

... epilepsy syndrome, autism, schizophrenia, Pitt-Hopkins syndrome, and attention deficit hyperactivity disorder. To explain the phenotypic pleiotropy of CNTNAP2 alterations, several hypotheses have been put forward. Those include gene disruption, loss of a gene copy by a heterozygous deletion, altered...

...Martin Poot Although autism spectrum disorder (ASD) shows a high degree of heritability, only a few mutated genes and mostly de novo copy number variations (CNVs) with a high phenotypic impact have as yet been identified. In families with multiple ASD patients, transmitted CNVs often do not appear...

...M. Poot Recent genomic research into autism spectrum disorders (ASD) has revealed a remarkably complex genetic architecture. Large numbers of common variants, copy number variations and single nucleotide variants have been identified, yet each of them individually afforded only a small phenotypic...

...A. Ghanizadeh Excitotoxicity, oxidative stress, and mitochondrial dysfunction are associated with autism. Considering the preventive role of complement 1q binding protein or olesoxime for the opening of mitochondrial permeability transition pore mediated by oxidative stress, it is hypothesized...