Christiane Zweier

Oct 23, 2024 | nature.com | Angela Peron |Kimberly A Aldinger |Christiane Zweier |Erica Andersen |Lynne M. Bird |Ange-Line Bruel | +11 more

AbstractAn increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed detailed analysis of 42 individuals with BCL11A-related IDD (BCL11A-IDD, a.k.a. Dias-Logan syndrome) ascertained through an international collaborative network, and reviewed 35 additional previously reported patients.

Oct 23, 2024 | nature.com | Angela Peron |Kimberly A Aldinger |Christiane Zweier |Erica Andersen |Lynne M. Bird |Ange-Line Bruel | +11 more

AbstractAn increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed detailed analysis of 42 individuals with BCL11A-related IDD (BCL11A-IDD, a.k.a. Dias-Logan syndrome) ascertained through an international collaborative network, and reviewed 35 additional previously reported patients.

Aug 21, 2024 | nature.com | Emily Banks |Sheng-Jia Lin |Vladimir S. Fonov |Maxime Lévesque |Armin Bayati |Fowzan S. Alkuraya | +28 more

AbstractDevelopmental and epileptic encephalopathies (DEEs) feature altered brain development, developmental delay and seizures, with seizures exacerbating developmental delay. Here we identify a cohort with biallelic variants in DENND5A, encoding a membrane trafficking protein, and develop animal models with phenotypes like the human syndrome.

Apr 26, 2024 | nature.com | Emily E. Lubin |Annabel K. Sangree |Rajesh Angireddy |Roberto Mendoza-Londono |Lucie Dupuis |Irene Valenzuela | +23 more

AbstractBryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 (H3-3A/H3F3A and H3-3B/H3F3B) [1–4]. This syndrome is characterized by developmental delay/intellectual disability, craniofacial anomalies, hyper/hypotonia, and abnormal neuroimaging [1, 5].

Feb 4, 2024 | nature.com | Matthias Christen |Anne Gregor |Rodrigo Gutierrez-Quintana |Jos Bongers |Angie Rupp |G. Diane Shelton | +2 more

AbstractTwo Jack-Russell Terrier × Chihuahua mixed-breed littermates with Leigh syndrome were investigated. The dogs presented with progressive ataxia, dystonia, and increased lactate levels. Brain MRI showed characteristic bilateral symmetrical T2 hyperintense lesions, histologically representing encephalomalacia. Muscle histopathology revealed accumulation of mitochondria.