A second individual with rhizomelic spondyloepimetaphyseal dysplasia and homozygous variant in GNPNAT1 |
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| Institution: | 1. Montpellier University, ERN ITHACA, Génétique Clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre Hospitalier Universitaire de Montpellier, Centre de Compétence Maladies Osseuses Constitutionnelles, INSERM U1183, Montpellier, France;2. Institut Saint-Pierre, Département de Médecine Physique et Réadaptation Pédiatrique, Palavas-Les-Flots, France;3. Montpellier University, Département d’Imagerie Pédiatrique, Centre Hospitalier Universitaire de Montpellier, Montpellier, France;4. Service de Biochimie Médicale et Génétique Moléculaire, Centre Hospitalier Universitaire Gabriel Montpied, Laboratoire AURAGEN (Plan France Médecine Génomique 2025), Clermont-Ferrand, France;5. Laboratoire de Génétique Chromosomique et Moléculaire, CHU-Hôpital Nord, Laboratoire AURAGEN (Plan France Médecine Génomique 2025), Saint Étienne, France;6. Montpellier University, Département de Pédiatrie Spécialisée, Centre de Compétence Maladies Endocriniennes Rares, Centre Hospitalier Universitaire de Montpellier, Montpellier, France;1. Hacettepe University Faculty of Medicine, Department of Child Health and Diseases, Unit of Cardiology, Ankara, Turkey;2. Ankara City Hospital, Department of Child Health and Diseases, Unit of Cardiology, Ankara, Turkey;3. Hacettepe University Faculty of Medicine, Department of Child Health and Diseases, Unit of Genetics, Ankara, Turkey;4. University of Health Sciences, Department of Pediatric Genetics, Ankara City Hospital, Ankara, Turkey;1. Laboratoire d’Economie de Dijon, Université de Bourgogne Franche-Comté, France;2. Filière AnDDI-Rares – CHU d’Angers, France;3. Filière AnDDI-Rares - APHP, France;4. Filière AnDDI-Rares – CHU, Dijon, France;5. Centre de Référence Anomalies du développement et Syndromes Malformatifs, Filière AnDDI-Rares, CHU, Dijon, France;1. Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, CA, USA;2. Department of Genetics, Kaiser Permanente, San Bernadino County, Fontana, CA, USA;3. Department of Cardiology, Department of Medicine, University of California, Irvine, CA, USA;4. Department of Radiology, University of California, Irvine, CA, USA;5. Cardiology, Lakeland Heart and Vascular, St Joseph, MI, USA;6. Department of Neurology, Department of Pathology, University of California, Irvine, CA, USA;1. Department of Genetics, Hadassah Medical Organization, Jerusalem, Israel;2. Department of Pediatrics & Genetics, Makassed Hospital, Al-Quds Medical School, E. Jerusalem, Palestine;3. Department of Radiology, Hadassah Medical Organization, Jerusalem, Israel;4. Division of Ophthalmology, Hadassah Medical Organization, Jerusalem, Israel;5. Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel;1. Department of Molecular Endocrinology, National Center for Child Health and Development, Tokyo, Japan;2. Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan;3. Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan;1. Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, CA, 94143-0748, USA;2. Department of Pathology, University of California San Francisco, San Francisco, CA, 94143, USA |
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| Abstract: | Spondyloepimetaphyseal dysplasias (SEMDs) belong to a clinically and genetically heterogeneous group of inherited skeletal disorders defined by a defect in the growth and shape of vertebrae, epiphyses and metaphyses. Rhizomelic SEMD is characterized by a disproportionate small stature caused by severe shortening and deformation of the limbs’ proximal bones, with the cranio-facial sphere unaffected. We report a second individual, an 8-year-old girl, with autosomal recessive rhizomelic SEMD associated with a homozygous exonic missense variant, c.226G > A p.(Glu76Lys), in GNPNAT1 identified by trio genome sequencing. Our data corroborate the recent findings of Ain et al. and further delineate the clinical and radiographic features of this form of SEMD associated with rhizomelic dysplasia while outlining a potential hotspot in this newly described genetic disorder. |
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| Keywords: | Skeletal disorder Spondyloepimetaphyseal dysplasia Heparan sulfate |
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