- Titel
- Congenital cervical spine malformation due to bi-allelicRIPPLY2 variants in spondylocostal dysostosis type 6
- Zitierfähige Url:
- https://nbn-resolving.org/urn:nbn:de:bsz:15-qucosa2-845885
- Quellenangabe
- Clinical genetics
Erscheinungsjahr: 2021
Jahrgang: 99
Heft: 4
Seiten: 565-571
ISSN: 0009-9163 - Erstveröffentlichung
- 2021
- Abstract (EN)
- RIPPLY2 is an essential part of the formation of somite patterning during embryogenesis and in establishment of rostro-caudal polarity. Here, we describe three individuals from two families with compound-heterozygous variants in RIPPLY2 (NM_001009994.2): c.238A > T, p.(Arg80*) and c.240-4 T > G, p.(?), in two 15 and 20-year-old sisters, and a homozygous nonsense variant, c.238A > T, p.(Arg80*), in an 8 year old boy. All patients had multiple vertebral body malformations in the cervical and thoracic region, small or absent rib involvement, myelopathies, and common clinical features of SCDO6 including scoliosis, mild facial asymmetry, spinal spasticity and hemivertebrae. The nonsense variant can be classified as likely pathogenic based on the ACMG criteria while the splice variants must be classified as a variant of unknown significance. With this report on two further families, we confirm RIPPLY2 as the gene for SCDO6 and broaden the phenotype by adding myelopathy with or without spinal canal stenosis and spinal spasticity to the symptom spectrum.
- Andere Ausgabe
- Link zur Erstveröffentlichung
Link: https://doi.org/10.1111/cge.13916 - Freie Schlagwörter (EN)
- cervical spine malformation, exome sequencing, Klippel-Feil-syndrome, myelopathy, SDV, spondylocostal dysostosis, supernumerary ribs
- Klassifikation (DDC)
- 610
- Verlag
- Wiley-Blackwell, Oxford
- Version / Begutachtungsstatus
- publizierte Version / Verlagsversion
- URN Qucosa
- urn:nbn:de:bsz:15-qucosa2-845885
- Veröffentlichungsdatum Qucosa
- 05.04.2023
- Dokumenttyp
- Artikel
- Sprache des Dokumentes
- Englisch
- Lizenz / Rechtehinweis
