{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T15:21:11Z","timestamp":1778944871849,"version":"3.51.4"},"reference-count":9,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,3,15]],"date-time":"2023-03-15T00:00:00Z","timestamp":1678838400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Russian Science Foundation","award":["21-75-10081"],"award-info":[{"award-number":["21-75-10081"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Molybdenum cofactor deficiency type B (MOCODB; #252160) is an autosomal recessive metabolic disorder that has only been described in 37 affected patients. In this report, we describe the presence of an in-frame homozygous variant (c.471_477delTTTAAAAinsG) in the MOCS2 gene in an affected child, diagnosed with Ohtahara syndrome according to the clinical manifestations. The analysis of the three-dimensional structure of the protein and the amino acid substitutions suggested the pathogenicity of this mutation. To prevent transmitting this mutation to the next generation, we used preimplantation genetic testing for the monogenic disorders (PGT-M) protocol to select MOCS2 gene mutant-free embryos for transfer in an in vitro fertilization (IVF) program. As a result, a healthy child was born. Interestingly, both parents of the proband shared an identical mitochondrial (mt) DNA control region, assuming their close relationship and thus suggesting that both copies of the nuclear rare variant c.471_477delTTTAAAAinsG may have been transmitted from the same female ancestor. Our estimation of the a priori probability of meeting individuals with the same mtDNA haplotype confirms the assumption of a possible distant maternal relationship among the proband\u2019s direct relatives.<\/jats:p>","DOI":"10.3390\/genes14030720","type":"journal-article","created":{"date-parts":[[2023,3,16]],"date-time":"2023-03-16T03:50:45Z","timestamp":1678938645000},"page":"720","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Live Birth of a Healthy Child in a Couple with Identical mtDNA Carrying a Pathogenic c.471_477delTTTAAAAinsG Variant in the MOCS2 Gene"],"prefix":"10.3390","volume":"14","author":[{"given":"Maria","family":"Tofilo","sequence":"first","affiliation":[{"name":"Center for Molecular and Cellular Biology, Skolkovo Institute of Science and Technology, 121205 Moscow, Russia"},{"name":"Medical Genomics, 170100 Tver, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia","family":"Voronova","sequence":"additional","affiliation":[{"name":"Center for Molecular and Cellular Biology, Skolkovo Institute of Science and Technology, 121205 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leila","family":"Nigmatullina","sequence":"additional","affiliation":[{"name":"Center for Molecular and Cellular Biology, Skolkovo Institute of Science and Technology, 121205 Moscow, Russia"},{"name":"Medical Genomics, 170100 Tver, Russia"},{"name":"Fomin Clinics, 119192 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Kuznetsova","sequence":"additional","affiliation":[{"name":"Fomin Clinics, 119192 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valeria","family":"Timonina","sequence":"additional","affiliation":[{"name":"School of Life Sciences, Ecole Polytechnique F\u00e9d\u00e9rale de Lausanne, 1015 Lausanne, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7635-3329","authenticated-orcid":false,"given":"Bogdan","family":"Efimenko","sequence":"additional","affiliation":[{"name":"Center for Mitochondrial Functional Genomics, Immanuel Kant Baltic Federal University, 236041 Kaliningrad, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6048-2425","authenticated-orcid":false,"given":"Oybek","family":"Turgunkhujaev","sequence":"additional","affiliation":[{"name":"Neurology Department, Semeynaya Clinic, 121059 Moscow, Russia"},{"name":"A.I. Burnazyan Federal Medical and Biophysical Center, 123098 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Svetlana","family":"Avdeichik","sequence":"additional","affiliation":[{"name":"Medical Genomics, 170100 Tver, Russia"},{"name":"Fomin Clinics, 119192 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Ansar","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Jules Gonin Eye Hospital, Fondation Asile Des Aveugles, University of Lausanne, 1015 Lausanne, Switzerland"},{"name":"Advanced Molecular Genetics and Genomics Disease Research and Treatment Centre, Dow University of Health Sciences, Karachi 74200, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Konstantin","family":"Popadin","sequence":"additional","affiliation":[{"name":"School of Life Sciences, Ecole Polytechnique F\u00e9d\u00e9rale de Lausanne, 1015 Lausanne, Switzerland"},{"name":"Center for Mitochondrial Functional Genomics, Immanuel Kant Baltic Federal University, 236041 Kaliningrad, Russia"},{"name":"Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anastasia","family":"Kirillova","sequence":"additional","affiliation":[{"name":"Center for Molecular and Cellular Biology, Skolkovo Institute of Science and Technology, 121205 Moscow, Russia"},{"name":"Fomin Clinics, 119192 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5448-9679","authenticated-orcid":false,"given":"Ilya","family":"Mazunin","sequence":"additional","affiliation":[{"name":"Center for Molecular and Cellular Biology, Skolkovo Institute of Science and Technology, 121205 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,3,15]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1002\/jimd.12488","article-title":"Molybdenum cofactor deficiency: A natural history","volume":"45","author":"Spiegel","year":"2022","journal-title":"J. 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