Congenital cervical spine malformation due to bi‐allelic RIPPLY2 variants in spondylocostal dysostosis type 6
| Autor: | Ellen Totten, Rami Abou Jamra, Maria J. Guillen Sacoto, Christian L. Roth, Meret Wegler, Frauke Hornemann, Jillene Kogan, Eckehard Schumann |
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| Rok vydání: | 2021 |
| Předmět: |
Male
0301 basic medicine media_common.quotation_subject Nonsense Mutation Missense Klippel–Feil syndrome Ribs Spinal canal stenosis Scoliosis 030105 genetics & heredity 03 medical and health sciences Myelopathy Spinal Stenosis Exome Sequencing Genetics medicine Humans Spasticity Child Alleles Genetics (clinical) media_common business.industry Infant Newborn Dysostoses Infant Anatomy medicine.disease Spondylocostal dysostosis Repressor Proteins 030104 developmental biology Somites Spinal Cord Codon Nonsense Face Cervical Vertebrae Female RNA Splice Sites medicine.symptom Hemivertebrae business |
| Zdroj: | Clinical Genetics. 99:565-571 |
| ISSN: | 1399-0004 0009-9163 |
| DOI: | 10.1111/cge.13916 |
| Popis: | 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. This article is protected by copyright. All rights reserved. |
| Databáze: | OpenAIRE |
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