{"entity": "researcher", "timestamp": "2026-09-23T22:19:48.612Z", "family": "Hofmeister", "given": "Wolfgang", "initials": "W", "orcid": "0000-0002-6306-9262", "affiliations": ["Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.", "Centre of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/dcb0e7b621694cc3bed0505b0cddcaf4.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/dcb0e7b621694cc3bed0505b0cddcaf4"}}, "publications": [{"entity": "publication", "iuid": "65aa2fbb6a1140fda4f35838e5af87e2", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/65aa2fbb6a1140fda4f35838e5af87e2.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/65aa2fbb6a1140fda4f35838e5af87e2"}}, "title": "Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene.", "authors": [{"family": "Lundin", "given": "Johanna", "initials": "J", "orcid": "0000-0003-1042-618X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d21bf1f7640e48aa8b6b3058981cfe65.json"}}, {"family": "Markljung", "given": "Ellen", "initials": "E"}, {"family": "Baranowska K\u00f6rberg", "given": "Izabella", "initials": "I"}, {"family": "Hofmeister", "given": "Wolfgang", "initials": "W", "orcid": "0000-0002-6306-9262", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/dcb0e7b621694cc3bed0505b0cddcaf4.json"}}, {"family": "Cao", "given": "Jia", "initials": "J"}, {"family": "Nilsson", "given": "Daniel", "initials": "D"}, {"family": "Holmdahl", "given": "Gundela", "initials": "G"}, {"family": "Barker", "given": "Gillian", "initials": "G"}, {"family": "Anderberg", "given": "Magnus", "initials": "M"}, {"family": "Vukojevi\u0107", "given": "Vladana", "initials": "V"}, {"family": "Lindstrand", "given": "Anna", "initials": "A", "orcid": "0000-0003-0806-5602", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3d28fb4cc61f4033b2ac525fed3d6b94.json"}}, {"family": "Nordenskj\u00f6ld", "given": "Agneta", "initials": "A"}], "type": "journal article", "published": "2019-06-00", "journal": {"title": "Mol Genet Genomic Med", "issn": "2324-9269", "volume": "7", "issue": "6", "pages": "e666", "issn-l": null}, "abstract": "The bladder exstrophy-epispadias complex (BEEC) is a congenital malformation of the bladder and urethra. The underlying causes of this malformation are still largely unknown; however, aside from environment, genetics is thought to play an essential role. The recurrent 22q11.2 microduplication is the most persistently detected genetic aberration found in BEEC cases.\n\nWe performed array comparative genomic hybridization (array-CGH) analysis of 76 Swedish BEEC patients. Statistical analysis was performed on current dataset pooled with previously published data on the 22q11.2 microduplication in BEEC patients. We performed massive parallel sequencing (MPS) of the 22q11.2 region in 20 BEEC patients without the 22q11.2 microduplication followed by functional studies.\n\nWe identified three additional cases with the 22q11.2 microduplication. Pooling data from this study with previously published reports showed a statistically significant enrichment of the 22q11.2 microduplication in BEEC patients (2.61% in cases vs. 0.08% in controls; OR = 32.6; p = 8.7 \u00d7 10-4 ). MPS of the 22q11.2 region in 20 BEEC patients without the 22q11.2 microduplication identified a novel variant in LZTR1 (p.Ser698Phe) in one patient. Functional evaluation of the LZTR1 p.Ser698Phe variant in live NIH 3T3 cells showed that the concentration and cytoplasmic mobility differ between the Lztr1wt and Lztr1mut , indicating a potential functional effect of the LZTR1mut .\n\nOur study further emphasizes the involvement of the 22q11.2 region in BEEC development and highlights LZTR1 as a candidate gene underlying the urogenital malformation.", "doi": "10.1002/mgg3.666", "pmid": "31044557", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC6565582"}], "notes": [], "created": "2026-09-23T12:10:36.069Z", "modified": "2026-09-23T12:10:36.160Z"}, {"entity": "publication", "iuid": "461b01d874124d3c9963a3c1537e2201", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/461b01d874124d3c9963a3c1537e2201.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/461b01d874124d3c9963a3c1537e2201"}}, "title": "Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.", "authors": [{"family": "Pettersson", "given": "Maria", "initials": "M", "orcid": "0000-0003-3120-1625", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/12ccdc228a31454b8d43136e9708350b.json"}}, {"family": "Vaz", "given": "Raquel", "initials": "R"}, {"family": "Hammarsj\u00f6", "given": "Anna", "initials": "A"}, {"family": "Eisfeldt", "given": "Jesper", "initials": "J", "orcid": "0000-0003-3716-4917", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/83d05cbf798f4b48800dc89b57427cf2.json"}}, {"family": "Carvalho", "given": "Claudia M B", "initials": "CMB", "orcid": "0000-0002-2090-298X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/957f6ddd88b24cf3aee597cf2095ec56.json"}}, {"family": "Hofmeister", "given": "Wolfgang", "initials": "W", "orcid": "0000-0002-6306-9262", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/dcb0e7b621694cc3bed0505b0cddcaf4.json"}}, {"family": "Tham", "given": "Emma", "initials": "E"}, {"family": "Horemuzova", "given": "Eva", "initials": "E"}, {"family": "Voss", "given": "Ulrika", "initials": "U"}, {"family": "Nishimura", "given": "Gen", "initials": "G"}, {"family": "Klintberg", "given": "Bo", "initials": "B"}, {"family": "Nordgren", "given": "Ann", "initials": "A"}, {"family": "Nilsson", "given": "Daniel", "initials": "D"}, {"family": "Grigelioniene", "given": "Giedre", "initials": "G"}, {"family": "Lindstrand", "given": "Anna", "initials": "A", "orcid": "0000-0003-0806-5602", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3d28fb4cc61f4033b2ac525fed3d6b94.json"}}], "type": "case reports", "published": "2018-10-00", "journal": {"title": "Hum. Mutat.", "issn": "1098-1004", "volume": "39", "issue": "10", "pages": "1456-1467", "issn-l": "1059-7794"}, "abstract": "Skeletal dysplasias are a diverse group of rare Mendelian disorders with clinical and genetic heterogeneity. Here, we used targeted copy number variant (CNV) screening and identified intragenic exonic duplications, formed through Alu-Alu fusion events, in two individuals with skeletal dysplasia and negative exome sequencing results. First, we detected a homozygous tandem duplication of exon 9 and 10 in IFT81 in a boy with Jeune syndrome, or short-rib thoracic dysplasia (SRTD) (MIM# 208500). Western blot analysis did not detect any wild-type IFT81 protein in fibroblasts from the patient with the IFT81 duplication, but only a shorter isoform of IFT81 that was also present in the normal control samples. Complementary zebrafish studies suggested that loss of full-length IFT81 protein but expression of a shorter form of IFT81 protein affects the phenotype while being compatible with life. Second, a de novo tandem duplication of exons 2 to 5 in MATN3 was identified in a girl with multiple epiphyseal dysplasia (MED) type 5 (MIM# 607078). Our data highlights the importance of detection and careful characterization of intragenic duplication CNVs, presenting them as a novel and very rare genetic mechanism in IFT81-related Jeune syndrome and MATN3-related MED.", "doi": "10.1002/humu.23605", "pmid": "30080953", "labels": [], "xrefs": [], "notes": [], "created": "2026-09-23T11:55:46.143Z", "modified": "2026-09-23T11:55:46.213Z"}, {"entity": "publication", "iuid": "9a8879e56d974c09a5b29d937ac90757", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/9a8879e56d974c09a5b29d937ac90757.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/9a8879e56d974c09a5b29d937ac90757"}}, "title": "Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish.", "authors": [{"family": "Hofmeister", "given": "Wolfgang", "initials": "W", "orcid": "0000-0002-6306-9262", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/dcb0e7b621694cc3bed0505b0cddcaf4.json"}}, {"family": "Pettersson", "given": "Maria", "initials": "M"}, {"family": "Kurtoglu", "given": "Deniz", "initials": "D"}, {"family": "Armenio", "given": "Miriam", "initials": "M"}, {"family": "Eisfeldt", "given": "Jesper", "initials": "J"}, {"family": "Papadogiannakis", "given": "Nikos", "initials": "N"}, {"family": "Gustavsson", "given": "Peter", "initials": "P"}, {"family": "Lindstrand", "given": "Anna", "initials": "A"}], "type": "journal article", "published": "2018-04-00", "journal": {"title": "Hum. Mutat.", "issn": "1098-1004", "volume": "39", "issue": "4", "pages": "495-505", "issn-l": "1059-7794"}, "abstract": "Congenital malformations affecting the neural tube can present as isolated malformations or occur in association with other developmental abnormalities and syndromes. Using high-resolution copy number screening in 66 fetuses with neural tube defects, we identified six fetuses with likely pathogenic mutations, three aneuploidies (one trisomy 13 and two trisomy 18) and three deletions previously reported in NTDs (one 22q11.2 deletion and two 1p36 deletions) corresponding to 9% of the cohort. In addition, we identified five rare deletions and two duplications of uncertain significance including a rare intragenic heterozygous in-frame WDR63 deletion in a fetus with occipital encephalocele. Whole genome sequencing verified the deletion and excluded known pathogenic variants. The deletion spans exons 14-17 resulting in the expression of a protein missing the third and fourth WD-repeat domains. These findings were supported by CRISPR/Cas9-mediated somatic deletions in zebrafish. Injection of two different sgRNA-pairs targeting relevant intronic regions resulted in a deletion mimicking the human deletion and a concomitant increase of abnormal embryos with body and brain malformations (41%, n = 161 and 62%, n = 224, respectively), including a sac-like brain protrusion (7% and 9%, P < 0.01). Similar results were seen with overexpression of RNA encoding the deleted variant in zebrafish (total abnormal; 46%, n = 255, P < 0.001) compared with the overexpression of an equivalent amount of wild-type RNA (total abnormal; 3%, n = 177). We predict the in-frame WDR63 deletion to result in a dominant negative or gain-of-function form of WDR63. These are the first findings supporting a role for WDR63 in encephalocele formation.", "doi": "10.1002/humu.23388", "pmid": "29285825", "labels": [], "xrefs": [], "notes": [], "created": "2018-12-05T12:46:59.517Z", "modified": "2026-09-23T11:51:40.959Z"}]}