The Koolen-de Vries syndrome: A phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

The Koolen-de Vries syndrome (KdVS; OMIM #610443), also known as the 17q21.31 microdeletion syndrome, is a clinically heterogeneous disorder characterised by (neonatal) hypotonia, developmental delay, moderate intellectual disability, and characteristic facial dysmorphism. Expressive language development is particularly impaired compared with receptive language or motor skills. Other frequently reported features include social and friendly behaviour, epilepsy, musculoskeletal anomalies, congenital heart defects, urogenital malformations, and ectodermal anomalies. The syndrome is caused by a truncating variant in the KAT8 regulatory NSL complex unit 1 (KANSL1) gene or by a 17q21.31 microdeletion encompassing KANSL1. Herein we describe a novel cohort of 45 individuals with KdVS of whom 33 have a 17q21.31 microdeletion and 12 a single-nucleotide variant (SNV) in KANSL1 (19 males, 26 females; age range 7 months to 50 years). We provide guidance about the potential pitfalls in the laboratory testing and emphasise the challenges of KANSL1 variant calling and DNA copy number analysis in the complex 17q21.31 region. Moreover, we present detailed phenotypic information, including neuropsychological features, that contribute to the broad phenotypic spectrum of the syndrome. Comparison of the phenotype of both the microdeletion and SNV patients does not show differences of clinical importance, stressing that haploinsufficiency of KANSL1 is sufficient to cause the full KdVS phenotype

High Energy Physics Opportunities Using Reactor Antineutrinos

Nuclear reactors are uniquely powerful, abundant, and flavor-pure sources of antineutrinos that continue to play a vital role in the US neutrino physics program. The US reactor antineutrino physics community is a diverse interest group encompassing many detection technologies and many particle physics topics, including Standard Model and short-baseline oscillations, BSM physics searches, and reactor flux and spectrum modeling. The community's aims offer strong complimentary with numerous aspects of the wider US neutrino program and have direct relevance to most of the topical sub-groups composing the Snowmass 2021 Neutrino Frontier. Reactor neutrino experiments also have a direct societal impact and have become a strong workforce and technology development pipeline for DOE National Laboratories and universities. This white paper, prepared as a submission to the Snowmass 2021 community organizing exercise, will survey the state of the reactor antineutrino physics field and summarize the ways in which current and future reactor antineutrino experiments can play a critical role in advancing the field of particle physics in the next decade

High Energy Physics Opportunities Using Reactor Antineutrinos

Nuclear reactors are uniquely powerful, abundant, and flavor-pure sources of antineutrinos that continue to play a vital role in the US neutrino physics program. The US reactor antineutrino physics community is a diverse interest group encompassing many detection technologies and many particle physics topics, including Standard Model and short-baseline oscillations, BSM physics searches, and reactor flux and spectrum modeling. The community's aims offer strong complimentary with numerous aspects of the wider US neutrino program and have direct relevance to most of the topical sub-groups composing the Snowmass 2021 Neutrino Frontier. Reactor neutrino experiments also have a direct societal impact and have become a strong workforce and technology development pipeline for DOE National Laboratories and universities. This white paper, prepared as a submission to the Snowmass 2021 community organizing exercise, will survey the state of the reactor antineutrino physics field and summarize the ways in which current and future reactor antineutrino experiments can play a critical role in advancing the field of particle physics in the next decade

High Energy Physics Opportunities Using Reactor Antineutrinos

Nuclear reactors are uniquely powerful, abundant, and flavor-pure sources of antineutrinos that continue to play a vital role in the US neutrino physics program. The US reactor antineutrino physics community is a diverse interest group encompassing many detection technologies and many particle physics topics, including Standard Model and short-baseline oscillations, BSM physics searches, and reactor flux and spectrum modeling. The community's aims offer strong complimentary with numerous aspects of the wider US neutrino program and have direct relevance to most of the topical sub-groups composing the Snowmass 2021 Neutrino Frontier. Reactor neutrino experiments also have a direct societal impact and have become a strong workforce and technology development pipeline for DOE National Laboratories and universities. This white paper, prepared as a submission to the Snowmass 2021 community organizing exercise, will survey the state of the reactor antineutrino physics field and summarize the ways in which current and future reactor antineutrino experiments can play a critical role in advancing the field of particle physics in the next decade

High Energy Physics Opportunities Using Reactor Antineutrinos

Nuclear reactors are uniquely powerful, abundant, and flavor-pure sources of antineutrinos that continue to play a vital role in the US neutrino physics program. The US reactor antineutrino physics community is a diverse interest group encompassing many detection technologies and many particle physics topics, including Standard Model and short-baseline oscillations, BSM physics searches, and reactor flux and spectrum modeling. The community's aims offer strong complimentary with numerous aspects of the wider US neutrino program and have direct relevance to most of the topical sub-groups composing the Snowmass 2021 Neutrino Frontier. Reactor neutrino experiments also have a direct societal impact and have become a strong workforce and technology development pipeline for DOE National Laboratories and universities. This white paper, prepared as a submission to the Snowmass 2021 community organizing exercise, will survey the state of the reactor antineutrino physics field and summarize the ways in which current and future reactor antineutrino experiments can play a critical role in advancing the field of particle physics in the next decade

High Energy Physics Opportunities Using Reactor Antineutrinos

Nuclear reactors are uniquely powerful, abundant, and flavor-pure sources of antineutrinos that continue to play a vital role in the US neutrino physics program. The US reactor antineutrino physics community is a diverse interest group encompassing many detection technologies and many particle physics topics, including Standard Model and short-baseline oscillations, BSM physics searches, and reactor flux and spectrum modeling. The community's aims offer strong complimentary with numerous aspects of the wider US neutrino program and have direct relevance to most of the topical sub-groups composing the Snowmass 2021 Neutrino Frontier. Reactor neutrino experiments also have a direct societal impact and have become a strong workforce and technology development pipeline for DOE National Laboratories and universities. This white paper, prepared as a submission to the Snowmass 2021 community organizing exercise, will survey the state of the reactor antineutrino physics field and summarize the ways in which current and future reactor antineutrino experiments can play a critical role in advancing the field of particle physics in the next decade

High Energy Physics Opportunities Using Reactor Antineutrinos

Nuclear reactors are uniquely powerful, abundant, and flavor-pure sources of antineutrinos that continue to play a vital role in the US neutrino physics program. The US reactor antineutrino physics community is a diverse interest group encompassing many detection technologies and many particle physics topics, including Standard Model and short-baseline oscillations, BSM physics searches, and reactor flux and spectrum modeling. The community's aims offer strong complimentary with numerous aspects of the wider US neutrino program and have direct relevance to most of the topical sub-groups composing the Snowmass 2021 Neutrino Frontier. Reactor neutrino experiments also have a direct societal impact and have become a strong workforce and technology development pipeline for DOE National Laboratories and universities. This white paper, prepared as a submission to the Snowmass 2021 community organizing exercise, will survey the state of the reactor antineutrino physics field and summarize the ways in which current and future reactor antineutrino experiments can play a critical role in advancing the field of particle physics in the next decade

High Energy Physics Opportunities Using Reactor Antineutrinos

Nuclear reactors are uniquely powerful, abundant, and flavor-pure sources of antineutrinos that continue to play a vital role in the US neutrino physics program. The US reactor antineutrino physics community is a diverse interest group encompassing many detection technologies and many particle physics topics, including Standard Model and short-baseline oscillations, BSM physics searches, and reactor flux and spectrum modeling. The community's aims offer strong complimentary with numerous aspects of the wider US neutrino program and have direct relevance to most of the topical sub-groups composing the Snowmass 2021 Neutrino Frontier. Reactor neutrino experiments also have a direct societal impact and have become a strong workforce and technology development pipeline for DOE National Laboratories and universities. This white paper, prepared as a submission to the Snowmass 2021 community organizing exercise, will survey the state of the reactor antineutrino physics field and summarize the ways in which current and future reactor antineutrino experiments can play a critical role in advancing the field of particle physics in the next decade

High Energy Physics Opportunities Using Reactor Antineutrinos

Nuclear reactors are uniquely powerful, abundant, and flavor-pure sources of antineutrinos that continue to play a vital role in the US neutrino physics program. The US reactor antineutrino physics community is a diverse interest group encompassing many detection technologies and many particle physics topics, including Standard Model and short-baseline oscillations, BSM physics searches, and reactor flux and spectrum modeling. The community's aims offer strong complimentary with numerous aspects of the wider US neutrino program and have direct relevance to most of the topical sub-groups composing the Snowmass 2021 Neutrino Frontier. Reactor neutrino experiments also have a direct societal impact and have become a strong workforce and technology development pipeline for DOE National Laboratories and universities. This white paper, prepared as a submission to the Snowmass 2021 community organizing exercise, will survey the state of the reactor antineutrino physics field and summarize the ways in which current and future reactor antineutrino experiments can play a critical role in advancing the field of particle physics in the next decade