{"entity": "researcher", "timestamp": "2026-09-26T23:33:25.208Z", "family": "Wilbe", "given": "M", "initials": "M", "orcid": "0000-0003-3000-0696", "affiliations": ["Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/c4a8b222839645f882e50d3d5595a25b.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/c4a8b222839645f882e50d3d5595a25b"}}, "publications": [{"entity": "publication", "iuid": "02bed9118b5141c0a79c81b7d6da1c4e", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/02bed9118b5141c0a79c81b7d6da1c4e.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/02bed9118b5141c0a79c81b7d6da1c4e"}}, "title": "Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis.", "authors": [{"family": "Johansson", "given": "Josefin", "initials": "J", "orcid": "0000-0002-5152-4096", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/89be12a9d71848bb945916cd936700f4.json"}}, {"family": "Frykholm", "given": "Carina", "initials": "C"}, {"family": "Ericson", "given": "Katharina", "initials": "K"}, {"family": "Kazamia", "given": "Kalliopi", "initials": "K"}, {"family": "Lindberg", "given": "Amanda", "initials": "A"}, {"family": "Mulaiese", "given": "Nancy", "initials": "N"}, {"family": "Falck", "given": "Geir", "initials": "G"}, {"family": "Gustafsson", "given": "Per-Erik", "initials": "PE"}, {"family": "Lid\u00e9us", "given": "Sarah", "initials": "S"}, {"family": "Gudmundsson", "given": "Sanna", "initials": "S"}, {"family": "Ameur", "given": "Adam", "initials": "A", "orcid": "0000-0001-6085-6749", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a8b8ce05cf7f49aeb3199b5938b9f160.json"}}, {"family": "Bondeson", "given": "Marie-Louise", "initials": "ML"}, {"family": "Wilbe", "given": "Maria", "initials": "M", "orcid": "0000-0003-3000-0696", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c4a8b222839645f882e50d3d5595a25b.json"}}], "type": "journal article", "published": "2022-06-00", "journal": {"title": "Am. J. Med. Genet. A", "issn": "1552-4833", "volume": "188", "issue": "6", "pages": "1676-1687", "issn-l": "1552-4825"}, "abstract": "The Nexilin F-Actin Binding Protein (Nexilin) encoded by NEXN is a cardiac Z-disc protein important for cardiac function and development in humans, zebrafish, and mice. Heterozygote variants in the human NEXN gene have been reported to cause dilated and hypertrophic cardiomyopathy. Homozygous variants in NEXN cause a lethal form of human fetal cardiomyopathy, only described in two patients before. In a Swedish, four-generation, non-consanguineous family comprising 42 individuals, one female had three consecutive pregnancies with intrauterine fetal deaths caused by a lethal form of dilated cardiomyopathy. Whole-exome sequencing and variant analysis revealed that the affected fetuses were homozygous for a NEXN variant (NM_144573:c.1302del;p.(Ile435Serfs*3)). Moreover, autopsy and histology staining declared that they presented with cardiomegaly and endocardial fibroelastosis. Immunohistochemistry staining for Nexilin in the affected fetuses revealed reduced antibody staining and loss of striation in the heart, supporting loss of Nexilin function. Clinical examination of seven heterozygote carriers confirmed dilated cardiomyopathy (two individuals), other cardiac findings (three individuals), or no cardiac deviations (two individuals), indicating incomplete penetrance or age-dependent expression of dilated cardiomyopathy. RNA sequencing spanning the variant in cDNA blood of heterozygote individuals revealed nonsense-mediated mRNA decay of the mutated transcripts. In the current study, we present the first natural course of the recessively inherited lethal form of human fetal cardiomyopathy caused by loss of Nexilin function. The affected family had uneventful pregnancies until week 23-24, followed by fetal death at week 24-30, characterized by cardiomegaly and endocardial fibroelastosis.", "doi": "10.1002/ajmg.a.62685", "pmid": "35166435", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC9306924"}], "notes": [], "created": "2026-09-23T10:12:27.273Z", "modified": "2026-09-23T10:50:48.728Z"}, {"entity": "publication", "iuid": "3970fa7f66b7442e965a355c683280b1", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/3970fa7f66b7442e965a355c683280b1.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/3970fa7f66b7442e965a355c683280b1"}}, "title": "A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases.", "authors": [{"family": "Stattin", "given": "Eva-Lena", "initials": "EL"}, {"family": "Johansson", "given": "Josefin", "initials": "J"}, {"family": "Gudmundsson", "given": "Sanna", "initials": "S", "orcid": "0000-0002-2332-074X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/167f305a31a3449c82851b262d13ee87.json"}}, {"family": "Ameur", "given": "Adam", "initials": "A"}, {"family": "Lundberg", "given": "Staffan", "initials": "S"}, {"family": "Bondeson", "given": "Marie-Louise", "initials": "ML"}, {"family": "Wilbe", "given": "Maria", "initials": "M", "orcid": "0000-0003-3000-0696", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c4a8b222839645f882e50d3d5595a25b.json"}}], "type": "case reports", "published": "2018-06-00", "journal": {"title": "Am. J. Med. Genet. A", "issn": "1552-4833", "volume": "176", "issue": "6", "pages": "1405-1410", "issn-l": "1552-4825"}, "abstract": "Arthrogryposis multiplex congenita (AMC) is a heterogeneous disorder characterized by multiple joint contractures often in association with other congenital abnormalities. Pretibial linear vertical creases are a rare finding associated with arthrogryposis, and the etiology of the specific condition is unknown. We aimed to genetically and clinically characterize a boy from a consanguineous family, presenting with AMC and pretibial vertical linear creases on the shins. Whole exome sequencing and variant analysis revealed homozygous novel missense variants of ECEL1 (c.1163T > C, p.Leu388Pro, NM_004826) and MUSK (c.2572C > T, p.Arg858Cys, NM_005592). Both variants are predicted to have deleterious effects on the protein function, with amino acid positions highly conserved among species. The variants segregated in the family, with healthy mother, father, and sister being heterozygous carriers and the index patient being homozygous for both mutations. We report on a unique patient with a novel ECEL1 homozygous mutation, expanding the phenotypic spectrum of Distal AMC Type 5D to include vertical linear skin creases. The homozygous mutation in MUSK is of unknown clinical significance. MUSK mutations have previously shown to cause congenital myasthenic syndrome, a neuromuscular disorder with defects in the neuromuscular junction.", "doi": "10.1002/ajmg.a.38691", "pmid": "29663639", "labels": [], "xrefs": [], "notes": [], "created": "2019-01-17T13:49:30.713Z", "modified": "2026-09-23T13:26:26.654Z"}, {"entity": "publication", "iuid": "0c2eea38a542447c81dfbaecab07a33d", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/0c2eea38a542447c81dfbaecab07a33d.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/0c2eea38a542447c81dfbaecab07a33d"}}, "title": "A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders.", "authors": [{"family": "Wilbe", "given": "Maria", "initials": "M", "orcid": "0000-0003-3000-0696", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c4a8b222839645f882e50d3d5595a25b.json"}}, {"family": "Gudmundsson", "given": "Sanna", "initials": "S", "orcid": "0000-0002-2332-074X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/167f305a31a3449c82851b262d13ee87.json"}}, {"family": "Johansson", "given": "Josefin", "initials": "J"}, {"family": "Ameur", "given": "Adam", "initials": "A"}, {"family": "Stattin", "given": "Eva-Lena", "initials": "EL"}, {"family": "Anner\u00e9n", "given": "G\u00f6ran", "initials": "G"}, {"family": "Malmgren", "given": "Helena", "initials": "H"}, {"family": "Frykholm", "given": "Carina", "initials": "C"}, {"family": "Bondeson", "given": "Marie-Louise", "initials": "ML"}], "type": "case reports", "published": "2017-11-00", "journal": {"title": "Prenat. Diagn.", "issn": "1097-0223", "volume": "37", "issue": "11", "pages": "1146-1154", "issn-l": "0197-3851"}, "abstract": "De novo mutations contribute significantly to severe early-onset genetic disorders. Even if the mutation is apparently de novo, there is a recurrence risk due to parental germ line mosaicism, depending on in which gonadal generation the mutation occurred.\n\nWe demonstrate the power of using SMRT sequencing and ddPCR to determine parental origin and allele frequencies of de novo mutations in germ cells in two families whom had undergone assisted reproduction.\n\nIn the first family, a TCOF1 variant c.3156C>T was identified in the proband with Treacher Collins syndrome. The variant affects splicing and was determined to be of paternal origin. It was present in <1% of the paternal germ cells, suggesting a very low recurrence risk. In the second family, the couple had undergone several unsuccessful pregnancies where a de novo mutation PTPN11 c.923A>C causing Noonan syndrome was identified. The variant was present in 40% of the paternal germ cells suggesting a high recurrence risk.\n\nOur findings highlight a successful strategy to identify the parental origin of mutations and to investigate the recurrence risk in couples that have undergone assisted reproduction with an unknown donor or in couples with gonadal mosaicism that will undergo preimplantation genetic diagnosis.", "doi": "10.1002/pd.5156", "pmid": "28921562", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC5725701"}], "notes": [], "created": "2018-12-05T12:08:10.777Z", "modified": "2026-09-23T11:44:12.504Z"}, {"entity": "publication", "iuid": "10024ad953514db8b827c80caae050e8", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/10024ad953514db8b827c80caae050e8.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/10024ad953514db8b827c80caae050e8"}}, "title": "A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.", "authors": [{"family": "Bondeson", "given": "M-L", "initials": "ML"}, {"family": "Ericson", "given": "K", "initials": "K"}, {"family": "Gudmundsson", "given": "S", "initials": "S"}, {"family": "Ameur", "given": "A", "initials": "A"}, {"family": "Pont\u00e9n", "given": "F", "initials": "F"}, {"family": "Wesstr\u00f6m", "given": "J", "initials": "J"}, {"family": "Frykholm", "given": "C", "initials": "C"}, {"family": "Wilbe", "given": "M", "initials": "M", "orcid": "0000-0003-3000-0696", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c4a8b222839645f882e50d3d5595a25b.json"}}], "type": "journal article", "published": "2017-11-00", "journal": {"title": "Clin. Genet.", "issn": "1399-0004", "volume": "92", "issue": "5", "pages": "510-516", "issn-l": "0009-9163"}, "abstract": "Mutations in genes involved in the cilium-centrosome complex are called ciliopathies. Meckel-Gruber syndrome (MKS) is a ciliopathic lethal autosomal recessive syndrome characterized by genetically and clinically heterogeneous manifestations, including renal cystic dysplasia, occipital encephalocele and polydactyly. Several genes have previously been associated with MKS and MKS-like phenotypes, but there are still genes remaining to be discovered. We have used whole-exome sequencing (WES) to uncover the genetics of a suspected autosomal recessive Meckel syndrome phenotype in a family with 2 affected fetuses. RNA studies and histopathological analysis was performed for further delineation. WES lead to identification of a homozygous nonsense mutation c.256C>T (p.Arg86*) in CEP55 (centrosomal protein of 55 kDa) in the affected fetus. The variant has previously been identified in carriers in low frequencies, and segregated in the family. CEP55 is an important centrosomal protein required for the mid-body formation at cytokinesis. Our results expand the list of centrosomal proteins implicated in human ciliopathies and provide evidence for an essential role of CEP55 during embryogenesis and development of disease.", "doi": "10.1111/cge.13012", "pmid": "28295209", "labels": [], "xrefs": [], "notes": [], "created": "2018-12-05T11:56:15.917Z", "modified": "2026-09-23T09:29:02.832Z"}]}