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

Thalia Papadopoulos; Pauline Gaignard; Manuel Schiff; Marlène Rio; Daniela Karall; Adrien Legendre; Alain Verloes; Lyse Ruaud

doi:10.1016/j.ejmg.2023.104889

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

Eur J Med Genet. 2024 Feb:67:104889. doi: 10.1016/j.ejmg.2023.104889. Epub 2023 Nov 27.

Authors

Thalia Papadopoulos¹, Pauline Gaignard², Manuel Schiff³, Marlène Rio⁴, Daniela Karall⁵, Adrien Legendre⁶, Alain Verloes⁷, Lyse Ruaud⁸

Affiliations

¹ APHP.Nord, Robert-Debré University Hospital, Department of Genetics, F-75019, Paris, France.
² 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.
³ 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.
⁴ Departments of Pediatrics, Neurology and Genetics, Hopital Necker Enfants-Malades, 75015, Paris, France.
⁵ Clinic for Pediatrics, Inherited Metabolic Disorders, Medical University of Innsbruck, 6020, Innsbruck, Austria.
⁶ Laboratoire de biologie médicale multisites Seqoia - FMG2025, Paris, France.
⁷ APHP.Nord, Robert-Debré University Hospital, Department of Genetics, F-75019, Paris, France; INSERM UMR 1141, Neurodiderot, University of Paris, F-75019, Paris, France.
⁸ 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.

PMID: 38029925
DOI: 10.1016/j.ejmg.2023.104889

Abstract

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.

Keywords: Autistic features; Joint hypermobility; Mito-ribosomal protein S2; Mitochondrial ribosomes; OXPHOS complex deficiencies.

Publication types

Case Reports

MeSH terms

Hearing Loss, Sensorineural* / genetics
Humans
Microcephaly* / genetics
Phenotype
Ribosomal Proteins / genetics

Substances

ribosomal protein S2
Ribosomal Proteins