{"entity": "researcher", "timestamp": "2026-09-28T23:04:51.500Z", "family": "Zhao", "given": "Jin J", "initials": "JJ", "orcid": "0000-0001-8367-8391", "affiliations": ["Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/4482db256fa04f59b85d585b6599e1db.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/4482db256fa04f59b85d585b6599e1db"}}, "publications": [{"entity": "publication", "iuid": "6766ed392dcd4cbf90a29c23c2436061", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/6766ed392dcd4cbf90a29c23c2436061.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/6766ed392dcd4cbf90a29c23c2436061"}}, "title": "Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.", "authors": [{"family": "Zhao", "given": "Jin J", "initials": "JJ", "orcid": "0000-0001-8367-8391", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4482db256fa04f59b85d585b6599e1db.json"}}, {"family": "Halvardson", "given": "Jonatan", "initials": "J"}, {"family": "Zander", "given": "Cecilia S", "initials": "CS"}, {"family": "Zaghlool", "given": "Ammar", "initials": "A"}, {"family": "Georgii-Hemming", "given": "Patrik", "initials": "P"}, {"family": "M\u00e5nsson", "given": "Else", "initials": "E"}, {"family": "Brandberg", "given": "G\u00f6ran", "initials": "G"}, {"family": "S\u00e4vmarker", "given": "Helena E", "initials": "HE"}, {"family": "Frykholm", "given": "Carina", "initials": "C"}, {"family": "Kuchinskaya", "given": "Ekaterina", "initials": "E"}, {"family": "Thuresson", "given": "Ann-Charlotte", "initials": "AC"}, {"family": "Feuk", "given": "Lars", "initials": "L"}], "type": "journal article", "published": "2018-01-00", "journal": {"title": "Am. J. Med. Genet. B Neuropsychiatr. Genet.", "issn": "1552-485X", "volume": "177", "issue": "1", "pages": "10-20", "issn-l": "1552-4841"}, "abstract": "Intellectual Disability (ID) is a clinically heterogeneous condition that affects 2-3% of population worldwide. In recent years, exome sequencing has been a successful strategy for studies of genetic causes of ID, providing a growing list of both candidate and validated ID genes. In this study, exome sequencing was performed on 28 ID patients in 27 patient-parent trios with the aim to identify de novo variants (DNVs) in known and novel ID associated genes. We report the identification of 25 DNVs out of which five were classified as pathogenic or likely pathogenic. Among these, a two base pair deletion was identified in the PUF60 gene, which is one of three genes in the critical region of the 8q24.3 microdeletion syndrome (Verheij syndrome). Our result adds to the growing evidence that PUF60 is responsible for the majority of the symptoms reported for carriers of a microdeletion across this region. We also report variants in several genes previously not associated with ID, including a de novo missense variant in NAA15. We highlight NAA15 as a novel candidate ID gene based on the vital role of NAA15 in the generation and differentiation of neurons in neonatal brain, the fact that the gene is highly intolerant to loss of function and coding variation, and previously reported DNVs in neurodevelopmental disorders.", "doi": "10.1002/ajmg.b.32574", "pmid": "28990276", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC5765476"}], "notes": [], "created": "2018-12-05T12:25:28.501Z", "modified": "2026-09-23T09:30:08.650Z"}, {"entity": "publication", "iuid": "4045f4cbac1b4e5fb661635d4e19f116", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/4045f4cbac1b4e5fb661635d4e19f116.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/4045f4cbac1b4e5fb661635d4e19f116"}}, "title": "Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.", "authors": [{"family": "Zhao", "given": "Jin James", "initials": "JJ", "orcid": "0000-0001-8367-8391", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4482db256fa04f59b85d585b6599e1db.json"}}, {"family": "Halvardson", "given": "Jonatan", "initials": "J"}, {"family": "Knaus", "given": "Alexej", "initials": "A"}, {"family": "Georgii-Hemming", "given": "Patrik", "initials": "P"}, {"family": "Baeck", "given": "Peter", "initials": "P"}, {"family": "Krawitz", "given": "Peter M", "initials": "PM"}, {"family": "Thuresson", "given": "Ann-Charlotte", "initials": "AC"}, {"family": "Feuk", "given": "Lars", "initials": "L"}], "type": "journal article", "published": "2017-10-00", "journal": {"title": "Hum. Mutat.", "issn": "1098-1004", "volume": "38", "issue": "10", "pages": "1394-1401", "issn-l": "1059-7794"}, "abstract": "Glycosylphosphatidylinositol (GPI) is a glycolipid that tethers more than 150 different proteins to the cell surface. Aberrations in biosynthesis of GPI anchors cause congenital disorders of glycosylation with clinical features including intellectual disability (ID), seizures, and facial dysmorphism. Here, we present two siblings with ID, cerebellar hypoplasia, cerebellar ataxia, early-onset seizures, and minor facial dysmorphology. Using exome sequencing, we identified a homozygous nonsense variant (NM_001127178.1:c.1640G>A, p.Trp547*) in the gene Phosphatidylinositol Glycan Anchor Biosynthesis, Class G (PIGG) in both the patients. Variants in several other GPI anchor synthesis genes lead to a reduced expression of GPI-anchored proteins (GPI-APs) that can be measured by flow cytometry. No significant differences in GPI-APs could be detected in patient granulocytes, consistent with recent findings. However, fibroblasts showed a reduced global level of GPI anchors and of specific GPI-linked markers. These findings suggest that fibroblasts might be more sensitive to pathogenic variants in GPI synthesis pathway and are well suited to screen for GPI-anchor deficiencies. Based on genetic and functional evidence, we confirm that pathogenic variants in PIGG cause an ID syndrome, and we find that loss of function of PIGG is associated with GPI deficiency.", "doi": "10.1002/humu.23268", "pmid": "28581210", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC6180480"}], "notes": [], "created": "2018-12-05T12:27:20.901Z", "modified": "2026-09-23T11:48:56.730Z"}]}