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The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency
(Oxford University Press (OUP), 2025-11-14)
Merkevicius, Kajus
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Smirnov, Dmitrii
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Schlieben, Lea D
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Ganetzky, Rebecca
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Feichtinger, René G
1Scopus© Citations 1
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Dataset - Exploring the Impact of Mitonuclear Discordance on Disease in Latin American Admixed Populations
(GitHUB, 2025)
MAURICIO RUIZ
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DANIELA BOHME
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REPETTO LISBOA, MARIA GABRIELA
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REBOLLEDO JARAMILLO, BORIS EDUARDO
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Dataset - Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS
(National Institute of Mental Health Data Archive (NDA), 2023)
REPETTO LISBOA, MARIA GABRIELA
1
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Genome-wide tandem repeat expansions modify schizophrenia risk in the presence of a 22q11.2 deletion
(Springer Science and Business Media LLC, 2026-04-15)
Muyang Cheng
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Yue Yin
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Worrawat Engchuan
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Tracy Heung
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Kathleen Angkustsiri
1
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New genotype-phenotype correlations and management recommendations for individuals with RERE variants
(Elsevier BV, 2026-06)
David Curtis
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Xiaonan Zhao
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Nichole M. Owen
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Mahshid S. Azamian
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Seema R. Lalani
Scopus© Citations 2 2
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Recomendaciones anestésicas frente a una variante genética infrecuente en población con ascendencia venezolana, con posible asociación a complicaciones neurológicas severas tras anestesia general
(Asociacion de Medicos Anestesiologos de Chile, 2026)
Paulina Marquez
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María Alexandra Fajardo
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Macarena Monsalve
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Piero Canepa
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Silvana Cavallieri
1Scopus© Citations 2
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Dataset - Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome
(National Institute of Mental Health Data Archive (NDA), 2020)
REPETTO LISBOA, MARIA GABRIELA
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Dataset - Therapeutic trajectories of families with rare diseases in Chile from the perspectives of patients, carers, and healthcare workers: a qualitative study
(2025)
CABIESES VALDES, BALTICA BEATRIZ
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OBACH KING, ALEXANDRA ALICE
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ANTONIA MARU ROBERTS POZO
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REPETTO LISBOA, MARIA GABRIELA
12
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Quantitative susceptibility mapping of deep brain nuclei in 22q11.2 deletion syndrome
(Frontiers Media SA, 2026-01-09)
Nestor Muñoz
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Marisleydis García
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Analía Cuiza
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Angeles Tepper
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Javiera Vásquez
<jats:sec> <jats:title>Background</jats:title> <jats:p>22q11.2 Deletion Syndrome (22q11.2 DS) confers a high risk to dopamine-related disorders such as schizophrenia and Parkinson’s disease. These disorders have recently been associated with abnormal iron concentrations in deep brain nuclei. In this study we hypothesized that abnormal iron concentrations may also appear in deep brain nuclei of individuals with 22q11.2 DS.</jats:p> </jats:sec> <jats:sec> <jats:title>Methods</jats:title> <jats:p>We analyzed iron concentrations in four dopamine-related nuclei (caudate, putamen, substantia nigra, and globus pallidus) of 32 individuals, including adolescents and adults, carriers of the 22q11.2 DS and 49 healthy controls. For all individuals, we characterized iron concentrations in each region by quantifying R2* values and using a recently developed technique called Quantitative Susceptibility Mapping (QSM). We used linear mixed models to analyze potential differences between 22q11.2 DS individuals and our control group, considering brain region, age, sex, laterality, volume size, and framewise-displacement as fixed-effect covariates and individuals’ intercepts as random effects.</jats:p> </jats:sec> <jats:sec> <jats:title>Results</jats:title> <jats:p>All individuals showed age-related increases in R2* values and susceptibility within dopaminergic nuclei (caudate, putamen, and substantia nigra). However, individuals with 22q11.2 DS showed a significantly lower rate of increase compared to healthy control group. This suggests that, over time, individuals with 22q11.2 deletion syndrome accumulate less iron in these nuclei than healthy controls.</jats:p> </jats:sec> <jats:sec> <jats:title>Conclusions</jats:title> <jats:p>Individuals with 22q11.2 DS present lower iron accumulation in dopaminergic areas, such as substantia nigra, caudate and putamen, relative to healthy controls. These findings suggest a possible association between a dopaminergic dysfunction and abnormal iron accumulation.</jats:p> </jats:sec>
1
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Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder
(Oxford University Press (OUP), 2025-06-11)
Marissa J Maroni
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Melissa Barton
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Katherine Lynch
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Ashish R Deshwar
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Philip D Campbell
<jats:title>Abstract</jats:title> <jats:p>Individuals with monoallelic gain-of-function variants in the histone lysine methyltransferase DOT1L display global developmental delay and varying congenital anomalies. However, the impact of monoallelic loss of DOT1L remains unclear. Here, we sought to define the effects of partial DOT1L loss by applying bulk and single-nucleus RNA-sequencing, ChIP-sequencing, imaging, multielectrode array recordings and behavioural analysis of zebrafish and multiple mouse models.</jats:p> <jats:p>We present a cohort of 16 individuals (12 females, 4 males) with neurodevelopmental disorders and monoallelic DOT1L variants, including a frameshift deletion, an in-frame deletion, a nonsense, and missense variants clustered in the catalytic domain. We demonstrate that specific variants cause loss of methyltransferase activity. In primary cortical neurons, Dot1l knockdown disrupts transcription of synaptic genes, neuron branching, expression of a synaptic protein and neuronal activity. Further in the cortex of heterozygous Dot1l mice, Dot1l loss causes sex-specific transcriptional responses and H3K79me2 depletion, including within downregulated genes. Lastly, using both zebrafish and mouse models, we found behavioural disruptions that include developmental deficits and sex-specific social behavioural changes.</jats:p> <jats:p>Overall, we define how DOT1L loss leads to neurological dysfunction by demonstrating that partial Dot1l loss impacts neuronal transcription, neuron morphology and behaviour across multiple models and systems.</jats:p>
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