Bi-allelic Variants in DAP3 Result in Reduced Assembly of the Mitoribosomal Small Subunit with Altered Apoptosis and a Perrault-syndrome-spectrum Phenotype Thomas B. Smith , Robert Kopajtich , Leigh A. M. Demain , Alessandro Rea , Huw B. Thomas , Manuel Schiff , Christian Beetz , Shelagh Joss , Gerard S. Conway , Anju Shukla , Mayuri Yeole , Periyasamy Radhakrishnan , Hatem Azzouz , Amel Ben Chehida , Monique Elmaleh-Berges , Ruth I. C. Glasgow , Kyle Thompson , Monika Olahova , Langping He , Emma M. Jenkinson , Amir Jahic , Inna A. Belyantseva , Melanie Barzik , Jill E. Urquhart , James O'Sullivan , Simon G. Williams , Sanjeev S. Bhaskar , Samantha Carrera , Alexander J. M. Blakes , Siddharth Banka , Wyatt W. Yue , Jamie M. Ellingford , Henry Houlden , D. D. D. DDD Study , Kevin J. Munro , Thomas B. Friedman , Robert W. Taylor , Holger Prokisch , Raymond T. Keefe , William G. Newman AMERICAN JOURNAL OF HUMAN GENETICS（2025）
关键词
DAP3, mitochondria, mitoribosome, MRPS29, rare disease, Perrault syndrome, sensorineural hearing loss, ovarian insufficiency, leukodystrophy, mitoribosomal small subunit
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