- Titel
- Homozygous loss‑of‑function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly
- Zitierfähige Url:
- https://nbn-resolving.org/urn:nbn:de:bsz:15-qucosa2-1031622
- Quellenangabe
- Human Genetics
Erscheinungsjahr: 2023
Jahrgang: 142
Heft: 4
Seiten: 543-552
ISSN: 0340-6717
E-ISSN: 1432-1203 - Erstveröffentlichung
- 2023
- Abstract (EN)
- Arthrogryposis multiplex congenita forms a broad group of clinically and etiologically heterogeneous disorders characterized by congenital joint contractures that involve at least two different parts of the body. Neurological and muscular disorders are commonly underlying arthrogryposis. Here, we report five affected individuals from three independent families sharing an overlapping phenotype with congenital contractures affecting shoulder, elbow, hand, hip, knee and foot as well as scoliosis, reduced palmar and plantar skin folds, microcephaly and facial dysmorphism. Using exome sequencing, we identified homozygous truncating variants in FILIP1 in all patients. FILIP1 is a regulator of filamin homeostasis required for the initiation of cortical cell migration in the developing neocortex and essential for the differentiation process of cross-striated muscle cells during myogenesis. In summary, our data indicate that bi-allelic truncating variants in FILIP1 are causative of a novel autosomal recessive disorder and expand the spectrum of genetic factors causative of arthrogryposis multiplex congenita.
- Andere Ausgabe
- Erstveröffentlichung
DOI: 10.1007/s00439-023-02528-2 - Freie Schlagwörter (EN)
- Homozygous loss‑of‑function variants, FILIP1, autosomal recessive arthrogryposis multiplex congenita, microcephaly
- Klassifikation (DDC)
- 610
- 570
- Verlag
- Springer, Berlin, Heidelberg
- Förder- / Projektangaben
- Deutsche Forschungsgemeinschaft (DFG)
EXC 2067: Multiscale Bioimaging: Von molekularen Maschinen zu Netzwerken erregbarer Zellen
ID: 390729940 - Version / Begutachtungsstatus
- publizierte Version / Verlagsversion
- URN Qucosa
- urn:nbn:de:bsz:15-qucosa2-1031622
- Veröffentlichungsdatum Qucosa
- 18.03.2026
- Dokumenttyp
- Artikel
- Sprache des Dokumentes
- Englisch
- Lizenz / Rechtehinweis
CC BY 4.0