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Abstract Background Deletions covering the entire or partial JARID2 gene as well as pathogenic single nucleotide variants leading to haploinsufficiency of JARID2 have recently been shown to cause a clinically distinct neurodevelopmental syndrome. Here, we present a previously undescribed partial de novo duplication of the JARID2 gene in a patient displaying features similar to those of patients with JARID2 loss‐of‐function variants. Case report The index patient presents with abnormalities in gross motor skills and speech development as well as neuropsychiatric disorders. The patient has markedly dark infraorbital circles and slightly prominent supraorbital ridges.Whole‐genome sequencing and array comparative genomic hybridization revealed a novel disease‐causing variant type, a partial tandem duplication of JARID2, covering the exons 1–7. Furthermore, RNA sequencing validated the increased expression of these exons. Expression alterations were also detected in target genes of the PRC2 complex, in which JARID2 acts as an essential member. Conclusion Our data add to the variety of different pathogenic variants associated with JARID2 neurodevelopmental syndrome.

The human genome contains repetitive regions, such as segmental duplications, known to be prone to copy number variation. Segmental duplications are highly identical and homologous sequences, posing a specific challenge for most mutation detection methods. The giant nebulin gene is expressed in skeletal muscle. It harbors a large segmental duplication region composed of eight exons repeated three times, the so-called triplicate region. Mutations in nebulin are known to cause nemaline myopathy and other congenital myopathies. Using our custom targeted Comparative Genomic Hybridization arrays, we have previously shown that copy number variations in the nebulin triplicate region are pathogenic when the copy number of the segmental duplication block deviates two or more copies from the normal number, which is three per allele. To complement our Comparative Genomic Hybridization arrays, we have established a custom Droplet Digital PCR method for the detection of copy number variations within the nebulin triplicate region. The custom Droplet Digital PCR assays allow sensitive, rapid, high-throughput, and cost-effective detection of copy number variations within this region and is ready for implementation a screening method for disease-causing copy number variations of the nebulin triplicate region. We suggest that Droplet Digital PCR may also be used in the study and diagnostics of other segmental duplication regions of the genome.

We present here the first prenatal diagnosis of 17p13.1p13.3 duplication. 17p13.3 duplication has recently been defined as a new distinctive syndrome with several diagnosed patients. In the current case prenatal chromosome analysis (G-banding) performed on cultured amniocytes revealed additional material in chromosome 19p. This was further defined as a chromosome 17p13.1p13.3 duplication by FISH and genomic microarray analysis (GMA). In addition Prenatal BACs-on-Beads (PN_BoBs) assay was performed, which detected the duplication clearly. This enables rapid prenatal diagnosis of the duplication for this family in the future.

An inductive, qualitative content approach and participating co-creation were used to establish the Road Map for Sport, Experiences, and Well-being 2030 framework for the Päijät-Häme region of Finland. The themes of development are: With the development of conditions and infrastructure towards versatile and accessible actions; With digitalization towards effective accessibility; With the shared brand message towards an excellent customer experience; and With strong expertise towards seamless cooperation. The framework illustrates business development, sustainable solutions, dissemination and internationalization as cross-cutting perspectives. Furthermore, it provides regional guidelines for long-term collaborative development work; the identification of new synergies; the development of the sport, tourism and well-being business; and the strengthening of systematic and experimental innovation. It is a comprehensive regional plan for social interaction, and political–administrative decision-making and practice in Päijät-Häme. The framework can be used in other regions in a cross-administrative way to identify the specific characteristics of a region, highlight competitive advantages and outline the excellence of stakeholders.