The paper reports a novel neurodevelopmental disorder caused by a frameshift mutation in ATG9B, and characterizes its effects using cell models and knock-in mice.

DOI 10.3390/genes17060660

humanmouse

𝕏 PostBluesky

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedApr 16, 2025

Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder

Stéphanie Efthymiou, Cailyn P Leo, Chenghong Deng…·Dragony Fu

This study identifies biallelic TRMT1 variants causing a syndromic neurodevelopmental disorder through tRNA modification defects in humans and zebrafish.

12 citations

humanzebrafish

𝕏 PostBluesky

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedMar 4, 2025

Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

Huw B. Thomas, Leigh A. M. Demain, Alfredo Cabrera‐Orefice…·William G. Newman

14 citationstop 5%

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedFeb 17, 2025

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

Avinash V. Dharmadhikari, Maria Alba Abad, Reza Maroofian…·Universitat Autònoma de Barcelona. Departament de Medicina

The paper identifies SPOUT1/CENP-32 as a causative gene for SpADMiSS, linking its dysfunction to mitotic spindle defects and neurodevelopmental disorders.

DOI 10.1038/s41467-025-56876-w

zebrafishwhole-exome sequencing

𝕏 PostBluesky