{"entity": "researcher", "timestamp": "2026-08-08T16:33:17.740Z", "family": "Kvarnung", "given": "Malin", "initials": "M", "orcid": "0000-0003-0193-0165", "affiliations": ["Department of Molecular Medicine and SurgeryCenter for Molecular Medicine, Karolinska Institutet Stockholm Sweden", "Department of Clinical GeneticsKarolinska University Hospital Stockholm Sweden"], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/77c2ad2b3e1442f5937aded8e129994a.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/77c2ad2b3e1442f5937aded8e129994a"}}, "publications": [{"entity": "publication", "iuid": "ad68a32317274c03aa068006b44d02b9", "links": {"self": {"href": "https://publications.scilifelab.se/publication/ad68a32317274c03aa068006b44d02b9.json"}, "display": {"href": "https://publications.scilifelab.se/publication/ad68a32317274c03aa068006b44d02b9"}}, "title": "Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3.", "authors": [{"family": "Ben-Shabat", "given": "Ilan", "initials": "I", "orcid": "0000-0003-2211-7528", "researcher": {"href": "https://publications.scilifelab.se/researcher/f19650307eff4a4691585bdef569c414.json"}}, {"family": "Kvarnung", "given": "Malin", "initials": "M", "orcid": "0000-0003-0193-0165", "researcher": {"href": "https://publications.scilifelab.se/researcher/77c2ad2b3e1442f5937aded8e129994a.json"}}, {"family": "Sperker", "given": "Wolfgang", "initials": "W", "orcid": "0000-0002-5351-9418", "researcher": {"href": "https://publications.scilifelab.se/researcher/f4aa72d100f6463e9b3327bab3fbd239.json"}}, {"family": "Bruhn", "given": "Helene", "initials": "H"}, {"family": "Wredenberg", "given": "Anna", "initials": "A", "orcid": "0000-0002-2500-6121", "researcher": {"href": "https://publications.scilifelab.se/researcher/3ea9ee7305424cdb8c238ef569e5be03.json"}}, {"family": "Wibom", "given": "Rolf", "initials": "R", "orcid": "0000-0001-6721-4642", "researcher": {"href": "https://publications.scilifelab.se/researcher/c7d5fc666ef84a8784d8b28ecf233146.json"}}, {"family": "Nennesmo", "given": "Inger", "initials": "I", "orcid": "0009-0000-0871-1147", "researcher": {"href": "https://publications.scilifelab.se/researcher/7422a07a064648a5a1dfed8a9889503b.json"}}, {"family": "Engvall", "given": "Martin", "initials": "M"}, {"family": "Paucar", "given": "Martin", "initials": "M", "orcid": "0000-0003-3735-1480", "researcher": {"href": "https://publications.scilifelab.se/researcher/bbc592904eb5402ea48a624471d4b939.json"}}], "type": "journal article", "published": "2023-12-00", "journal": {"title": "Neurol Genet", "issn": "2376-7839", "volume": "9", "issue": "6", "pages": "e200100", "issn-l": "2376-7839"}, "abstract": "Biallelic variants in XPNPEP3 are associated with a rare mitochondrial syndrome characterized by nephronophthisis leading to kidney failure, essential tremor, hearing loss, seizures, and intellectual disability. Only 2 publications on this condition are available. We report a man with a complex ataxia syndrome, hearing loss, and kidney failure associated with a new biallelic variant in XPNPEP3.\n\nClinical evaluation, neuroimaging studies, a kidney biopsy, and whole genome sequencing (WGS) were applied. Since the phenotype was compatible with a mitochondrial disease, a muscle biopsy with morphological and mitochondrial biochemical investigations was performed.\n\nAxial ataxia, cerebellar atrophy, hearing loss, myopathy, ptosis, supranuclear palsy, and kidney failure because of nephronophthisis were the prominent features in this case. WGS revealed the novel biallelic variant c.766C>T (p.Gln256*) in XPNPEP3. A muscle biopsy revealed COX negative fibers, a few ragged red fibers, and ultrastructural mitochondrial changes. Enzyme activity in respiratory chain complex IV was reduced in muscle and fibroblasts.\n\nThis is the first report of a slowly progressive cerebellar ataxia associated with a novel biallelic variant in XPNPEP3. Abnormalities typical for mitochondrial disease and the slow progression of kidney disease are also striking. Our report expands the spectrum of XPNPEP3-related diseases.", "doi": "10.1212/NXG.0000000000200100", "pmid": "38035175", "labels": {"Clinical Genomics Stockholm": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC10684053"}, {"db": "pii", "key": "NXG-2023-000165"}], "notes": [], "created": "2024-11-21T10:09:19.210Z", "modified": "2024-11-21T10:28:20.978Z"}, {"entity": "publication", "iuid": "f431ae3d2b964a4daf0a073938e8b951", "links": {"self": {"href": "https://publications.scilifelab.se/publication/f431ae3d2b964a4daf0a073938e8b951.json"}, "display": {"href": "https://publications.scilifelab.se/publication/f431ae3d2b964a4daf0a073938e8b951"}}, "title": "Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability.", "authors": [{"family": "Kvarnung", "given": "Malin", "initials": "M", "orcid": "0000-0003-0193-0165", "researcher": {"href": "https://publications.scilifelab.se/researcher/77c2ad2b3e1442f5937aded8e129994a.json"}}, {"family": "Taylan", "given": "Fulya", "initials": "F", "orcid": "0000-0002-2907-0235", "researcher": {"href": "https://publications.scilifelab.se/researcher/c250909cc40f42ff9d6e2f640d12451b.json"}}, {"family": "Nilsson", "given": "Daniel", "initials": "D"}, {"family": "Anderlid", "given": "Britt-Marie", "initials": "BM"}, {"family": "Malmgren", "given": "Helena", "initials": "H"}, {"family": "Lagerstedt-Robinson", "given": "Kristina", "initials": "K"}, {"family": "Holmberg", "given": "Eva", "initials": "E"}, {"family": "Burstedt", "given": "Magnus", "initials": "M"}, {"family": "Nordenskj\u00f6ld", "given": "Magnus", "initials": "M"}, {"family": "Nordgren", "given": "Ann", "initials": "A"}, {"family": "Lundberg", "given": "Elisabeth S", "initials": "ES"}], "type": "journal article", "published": "2018-12-00", "journal": {"volume": "94", "issn": "1399-0004", "issue": "6", "title": "Clin. Genet.", "pages": "528-537", "issn-l": "0009-9163"}, "abstract": "We have investigated 20 consanguineous families with multiple children affected by rare disorders. Detailed clinical examinations, exome sequencing of affected as well as unaffected family members and further validation of likely pathogenic variants were performed. In 16/20 families, we identified pathogenic variants in autosomal recessive disease genes (ALMS1, PIGT, FLVCR2, TFG, CYP7B1, ALG14, EXOSC3, MEGF10, ASAH1, WDR62, ASPM, PNPO, ERCC5, KIAA1109, RIPK4, MAN1B1). A number of these genes have only rarely been reported previously and our findings thus confirm them as disease genes, further delineate the associated phenotypes and expand the mutation spectrum with reports of novel variants. We highlight the findings in two affected siblings with splice altering variants in ALG14 and propose a new clinical entity, which includes severe intellectual disability, epilepsy, behavioral problems and mild dysmorphic features, caused by biallelic variants in ALG14.", "doi": "10.1111/cge.13448", "pmid": "30221345", "labels": {"National Genomics Infrastructure": "Service", "NGI Stockholm (Genomics Applications)": "Service", "NGI Stockholm (Genomics Production)": "Service", "Clinical Genomics Stockholm": "Service", "Bioinformatics Support for Computational Resources": "Service", "Clinical Genomics": "Service"}, "xrefs": [], "notes": [], "created": "2018-10-31T19:44:56.743Z", "modified": "2024-01-16T13:48:45.052Z"}]}