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.
| Identifer | oai:union.ndltd.org:DRESDEN/oai:qucosa:de:qucosa:84588 |
| Date | 05 April 2023 |
| Creators | Wegler, Meret, Roth, Christian, Schumann, Eckehard, Kogan, Jillene, Totten, Ellen, Guillen Sacoto, Maria J., Abou Jamra, Rami, Hornemann, Frauke |
| Publisher | Wiley-Blackwell |
| Source Sets | Hochschulschriftenserver (HSSS) der SLUB Dresden |
| Language | English |
| Detected Language | English |
| Type | info:eu-repo/semantics/publishedVersion, doc-type:article, info:eu-repo/semantics/article, doc-type:Text |
| Rights | info:eu-repo/semantics/openAccess |
| Relation | 0009-9163 |
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