{"entity": "researcher", "timestamp": "2026-06-08T05:38:44.609Z", "family": "Campeau", "given": "Philippe M", "initials": "PM", "orcid": "0000-0002-0139-8239", "affiliations": ["Department of Pediatrics, University of Montreal, Montreal, QC, Canada."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/3e2ed42024554f40a944c4d507a6cabe.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/3e2ed42024554f40a944c4d507a6cabe"}}, "publications": [{"entity": "publication", "iuid": "4bc7ec8ead1d4139bf2d4017afe1bd61", "links": {"self": {"href": "https://publications.scilifelab.se/publication/4bc7ec8ead1d4139bf2d4017afe1bd61.json"}, "display": {"href": "https://publications.scilifelab.se/publication/4bc7ec8ead1d4139bf2d4017afe1bd61"}}, "title": "Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.", "authors": [{"family": "Jacob", "given": "Prince", "initials": "P", "orcid": "0000-0002-3343-3262", "researcher": {"href": "https://publications.scilifelab.se/researcher/e996caa7e6914b379208eb78bff9745b.json"}}, {"family": "Lindel\u00f6f", "given": "Hillevi", "initials": "H"}, {"family": "Rustad", "given": "Cecilie F", "initials": "CF", "orcid": "0000-0001-7903-9087", "researcher": {"href": "https://publications.scilifelab.se/researcher/6a07a4976faf41e0a32c6f6183b2c4b0.json"}}, {"family": "Sutton", "given": "Vernon Reid", "initials": "VR"}, {"family": "Moosa", "given": "Shahida", "initials": "S"}, {"family": "Udupa", "given": "Prajna", "initials": "P"}, {"family": "Hammarsj\u00f6", "given": "Anna", "initials": "A"}, {"family": "Bhavani", "given": "Gandham SriLakshmi", "initials": "GS"}, {"family": "Batkovskyte", "given": "Dominyka", "initials": "D", "orcid": "0000-0002-0492-1259", "researcher": {"href": "https://publications.scilifelab.se/researcher/017749b78ac540a6b2a36303130606f2.json"}}, {"family": "Tveten", "given": "Kristian", "initials": "K"}, {"family": "Dalal", "given": "Ashwin", "initials": "A"}, {"family": "Horemuzova", "given": "Eva", "initials": "E"}, {"family": "Nordgren", "given": "Ann", "initials": "A", "orcid": "0000-0003-3285-4281", "researcher": {"href": "https://publications.scilifelab.se/researcher/08e74c6ddc27493696beca0883027cdd.json"}}, {"family": "Tham", "given": "Emma", "initials": "E"}, {"family": "Shah", "given": "Hitesh", "initials": "H"}, {"family": "Merckoll", "given": "Else", "initials": "E"}, {"family": "Orellana", "given": "Laura", "initials": "L"}, {"family": "Nishimura", "given": "Gen", "initials": "G"}, {"family": "Girisha", "given": "Katta M", "initials": "KM", "orcid": "0000-0002-0139-8239", "researcher": {"href": "https://publications.scilifelab.se/researcher/3e2ed42024554f40a944c4d507a6cabe.json"}}, {"family": "Grigelioniene", "given": "Giedre", "initials": "G"}], "type": "journal article", "published": "2023-11-22", "journal": {"title": "npj Genom. Med.", "issn": "2056-7944", "volume": "8", "issue": "1", "pages": "39", "issn-l": "2056-7944"}, "abstract": "Spondyloepimetaphyseal dysplasia with severe short stature, RPL13-related (SEMD-RPL13), MIM#618728), is a rare autosomal dominant disorder characterized by short stature and skeletal changes such as mild spondylar and epimetaphyseal dysplasia affecting primarily the lower limbs. The genetic cause was first reported in 2019 by Le Caignec et al., and six disease-causing variants in the gene coding for a ribosomal protein, RPL13 (NM_000977.3) have been identified to date. This study presents clinical and radiographic data from 12 affected individuals aged 2-64 years from seven unrelated families, showing highly variable manifestations. The affected individuals showed a range from mild to severe short stature, retaining the same radiographic pattern of spondylar- and epi-metaphyseal dysplasia, but with varying severity of the hip and knee deformities. Two new missense variants, c.548 G>A, p.(Arg183His) and c.569 G>T, p.(Arg190Leu), and a previously known splice variant c.477+1G>A were identified, confirming mutational clustering in a highly specific RNA binding motif. Structural analysis and interpretation of the variants' impact on the protein suggests that disruption of extra-ribosomal functions of the protein through binding of mRNA may play a role in the skeletal phenotype of SEMD-RPL13. In addition, we present gonadal and somatic mosaicism for the condition.", "doi": "10.1038/s41525-023-00380-x", "pmid": "37993442", "labels": {"Clinical Genomics Stockholm": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC10665555"}, {"db": "pii", "key": "10.1038/s41525-023-00380-x"}], "notes": [], "created": "2023-12-04T11:30:28.842Z", "modified": "2024-11-28T18:27:37.037Z"}, {"entity": "publication", "iuid": "ab68cafc60d9492f9a0dd5ac2b1247ca", "links": {"self": {"href": "https://publications.scilifelab.se/publication/ab68cafc60d9492f9a0dd5ac2b1247ca.json"}, "display": {"href": "https://publications.scilifelab.se/publication/ab68cafc60d9492f9a0dd5ac2b1247ca"}}, "title": "ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy.", "authors": [{"family": "Mattison", "given": "Kari A", "initials": "KA", "orcid": "0000-0003-2130-5228", "researcher": {"href": "https://publications.scilifelab.se/researcher/f0ab721860a74b7ab01729ac00073486.json"}}, {"family": "Tossing", "given": "Gilles", "initials": "G"}, {"family": "Mulroe", "given": "Fred", "initials": "F"}, {"family": "Simmons", "given": "Callum", "initials": "C"}, {"family": "Butler", "given": "Kameryn M", "initials": "KM"}, {"family": "Schreiber", "given": "Alison", "initials": "A"}, {"family": "Alsadah", "given": "Adnan", "initials": "A"}, {"family": "Neilson", "given": "Derek E", "initials": "DE"}, {"family": "Naess", "given": "Karin", "initials": "K"}, {"family": "Wedell", "given": "Anna", "initials": "A"}, {"family": "Wredenberg", "given": "Anna", "initials": "A"}, {"family": "Sorlin", "given": "Arthur", "initials": "A"}, {"family": "McCann", "given": "Emma", "initials": "E"}, {"family": "Burghel", "given": "George J", "initials": "GJ"}, {"family": "Menendez", "given": "Beatriz", "initials": "B"}, {"family": "Hoganson", "given": "George E", "initials": "GE"}, {"family": "Botto", "given": "Lorenzo D", "initials": "LD"}, {"family": "Filloux", "given": "Francis M", "initials": "FM"}, {"family": "Aledo-Serrano", "given": "\u00c1ngel", "initials": "\u00c1"}, {"family": "Gil-Nagel", "given": "Antonio", "initials": "A"}, {"family": "Tatton-Brown", "given": "Katrina", "initials": "K"}, {"family": "Verbeek", "given": "Nienke E", "initials": "NE"}, {"family": "van Hirtum-Das", "given": "Michele", "initials": "M"}, {"family": "Breckpot", "given": "Jeroen", "initials": "J"}, {"family": "Hammer", "given": "Trine Bj\u00f8rg", "initials": "TB"}, {"family": "M\u00f8ller", "given": "Rikke S", "initials": "RS"}, {"family": "Whitney", "given": "Andrea", "initials": "A"}, {"family": "Douglas", "given": "Andrew G L", "initials": "AGL"}, {"family": "Kharbanda", "given": "Mira", "initials": "M"}, {"family": "Brunetti-Pierri", "given": "Nicola", "initials": "N", "orcid": "0000-0002-6895-8819", "researcher": {"href": "https://publications.scilifelab.se/researcher/c9785f9985d645259283e808cdcd77a9.json"}}, {"family": "Morleo", "given": "Manuela", "initials": "M"}, {"family": "Nigro", "given": "Vincenzo", "initials": "V", "orcid": "0000-0002-3378-5006", "researcher": {"href": "https://publications.scilifelab.se/researcher/878ef24a4e4c4fc1aea632c8738b4321.json"}}, {"family": "May", "given": "Halie J", "initials": "HJ"}, {"family": "Tao", "given": "James X", "initials": "JX"}, {"family": "Argili", "given": "Emanuela", "initials": "E"}, {"family": "Sherr", "given": "Elliot H", "initials": "EH"}, {"family": "Dobyns", "given": "William B", "initials": "WB", "orcid": "0000-0002-7681-2844", "researcher": {"href": "https://publications.scilifelab.se/researcher/d24102c168b0425baaeb674247ae4076.json"}}, {"family": "Consortium", "given": "Genomics England Research", "initials": "GER"}, {"family": "Baines", "given": "Richard A", "initials": "RA", "orcid": "0000-0001-8571-4376", "researcher": {"href": "https://publications.scilifelab.se/researcher/e97fd3695c4540c9a5db676da48a3fda.json"}}, {"family": "Warwicker", "given": "Jim", "initials": "J"}, {"family": "Parker", "given": "J Alex", "initials": "JA"}, {"family": "Banka", "given": "Siddharth", "initials": "S", "orcid": "0000-0002-8527-2210", "researcher": {"href": "https://publications.scilifelab.se/researcher/cf26463312a64914ba658ba461ab89c4.json"}}, {"family": "Campeau", "given": "Philippe M", "initials": "PM", "orcid": "0000-0002-0139-8239", "researcher": {"href": "https://publications.scilifelab.se/researcher/3e2ed42024554f40a944c4d507a6cabe.json"}}, {"family": "Escayg", "given": "Andrew", "initials": "A", "orcid": "0000-0001-9713-7107", "researcher": {"href": "https://publications.scilifelab.se/researcher/c1419b4eb2e5454ba1cf8cb65b3578d2.json"}}], "type": "journal article", "published": "2022-09-08", "journal": {"title": "Brain", "issn": "1460-2156", "issn-l": "0006-8950"}, "abstract": "The vacuolar H+-ATPase (V-ATPase) is an enzymatic complex that functions in an ATP-dependent manner to pump protons across membranes and acidify organelles, thereby creating the proton/pH gradient required for membrane trafficking by several different types of transporters. We describe heterozygous point variants in ATP6V0C, encoding the c-subunit in the membrane bound integral domain of the V-ATPase, in 27 patients with neurodevelopmental abnormalities with or without epilepsy. Corpus callosum hypoplasia and cardiac abnormalities were also present in some patients. In silico modeling suggested that the patient variants interfere with the interactions between the ATP6V0C and ATP6V0A subunits during ATP hydrolysis. Consistent with decreased V-ATPase activity, functional analyses conducted in Saccharomyces cerevisiae revealed reduced LysoSensor fluorescence and reduced growth in media containing varying concentrations of CaCl2. Knockdown of ATP6V0C in Drosophila resulted in increased duration of seizure-like behavior, and the expression of selected patient variants in Caenorhabditis elegans led to reduced growth, motor dysfunction, and reduced lifespan. In summary, this study establishes ATP6V0C as an important disease gene, describes the clinical features of the associated neurodevelopmental disorder, and provides insight into disease mechanisms.", "doi": "10.1093/brain/awac330", "pmid": "36074901", "labels": {"Clinical Genomics Stockholm": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pii", "key": "6694191"}], "notes": [], "created": "2022-11-22T07:33:52.940Z", "modified": "2022-11-22T07:33:53.186Z"}]}