ABSTRACT
When a de novo balanced reciprocal translocation is identified in the patient, the cause of phenotype of the patient can be explained by detecting the breakpoints of the genes. Here, we report a 3-year-old patient with developmental delay, autism spectrum disorder, and distinctive facial features who had an apparently balanced translocation between chromosome 3q26 and chromosome 7q36. Nanopore long-read sequencing revealed that balanced translocation disrupted the KMT2C gene, the haploinsufficiency of which leads to Kleefstra syndrome 2 characterized by delayed psychomotor development, variable intellectual disability and mild dysmorphism. Nanopore long-read sequencing was shown to be useful in elucidating the exact genetic etiology of patients with nonspecific clinical findings.
Subject(s)
Autism Spectrum Disorder , Intellectual Disability , Humans , Autism Spectrum Disorder/diagnosis , Autism Spectrum Disorder/genetics , Chromosomes , Intellectual Disability/diagnosis , Intellectual Disability/genetics , Phenotype , Translocation, Genetic , Child, PreschoolABSTRACT
BACKGROUND: The levels of parental stress among parents of children with Asperger's syndrome in comparison with parents of children with autism are unknown in the Japanese population. METHODS: The stress levels in Japanese parents caring for children with Asperger's syndrome were compared with the stress levels found in Japanese parents caring for children with autism using the Parenting Stress Index/Short Form. RESULTS: In a sample of 193 families, both groups had a significant increase in parental stress levels. In addition, strong evidence was obtained for the presence of higher levels of parental stress in the Asperger's group compared with the parents of the autism group after controlling for the impact of confounders, F(5,187) = 9.11, P = 0.003. The elevated levels of parental stress found in the Asperger's group appeared to be attributable to characteristics associated with the child's basic behavior. The potential mechanism, implications and strategies for further research are discussed. CONCLUSION: There are significantly elevated parental stress levels in Japanese parents of children with Asperger's syndrome or autism. In addition, the total parental stress levels were significantly higher in parents of children with Asperger's syndrome than in parents of children with autism.
