New description of an MRPS2 homozygous patient: Further features to help expend the phenotype.

Autor: Papadopoulos T; APHP.Nord, Robert-Debré University Hospital, Department of Genetics, F-75019, Paris, France., Gaignard P; Laboratoire de Biochimie Site Bicêtre, Faculté de Pharmacie, Hôpitaux Universitaires Paris-Saclay, Centre de référence des Maladies Mitochondriales, Filière Filnemus, France; Laboratoire de biologie médicale multisites Seqoia - FMG2025, Paris, France., Schiff M; Necker Hospital, APHP, Reference Center for Inborn Error of Metabolism and Filière G2M, Pediatrics Department, University of Paris, Paris, France; Inserm UMR_S1163, Institut Imagine, Paris, France., Rio M; Departments of Pediatrics, Neurology and Genetics, Hopital Necker Enfants-Malades, 75015, Paris, France., Karall D; Clinic for Pediatrics, Inherited Metabolic Disorders, Medical University of Innsbruck, 6020, Innsbruck, Austria., Legendre A; Laboratoire de biologie médicale multisites Seqoia - FMG2025, Paris, France., Verloes A; APHP.Nord, Robert-Debré University Hospital, Department of Genetics, F-75019, Paris, France; INSERM UMR 1141, Neurodiderot, University of Paris, F-75019, Paris, France., Ruaud L; APHP.Nord, Robert-Debré University Hospital, Department of Genetics, F-75019, Paris, France; INSERM UMR 1141, Neurodiderot, University of Paris, F-75019, Paris, France. Electronic address: lyse.ruaud@aphp.fr.
Jazyk: angličtina
Zdroj: European journal of medical genetics [Eur J Med Genet] 2024 Feb; Vol. 67, pp. 104889. Date of Electronic Publication: 2023 Nov 27.
DOI: 10.1016/j.ejmg.2023.104889
Abstrakt: Mutated mito-ribosomal protein S2 (MRPS2) was already described in only three subjects, two with sensorineural hearing impairment, mild developmental delay, hypoglycemia, lactic acidemia and combined oxidative phosphorylation system deficiency and another, recently, presenting with a less severe phenotype. In order to expand the phenotype, we describe a new MRPS2 homozygous subject who shows particular features which have not yet been reported: initial microcephaly, joint hypermobility and autistic features.
Competing Interests: Declaration of competing interest The authors declare no conflict of interest.
(Copyright © 2023. Published by Elsevier Masson SAS.)
Databáze: MEDLINE
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