Robinow syndrome in an extremely preterm infant: novel homozygous ROR2 variant detected by rapid exome sequencing
McDermott, Helen Robinson, Hannah K Caswell, Richard Gowda, Harsha Offiah, Amaka Naik, Swati
McDermott, Helen
Robinson, Hannah K
Caswell, Richard
Gowda, Harsha
Offiah, Amaka
Naik, Swati
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Birmingham Women's and Children's NHS Foundation Trust; Royal Devon and Exeter NHS Foundation; University of Exeter Medical School; University Hospitals Birmingham NHS Foundation Trust; University of Sheffield
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Publication date
2021-09-24
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Abstract
An extremely preterm infant presented with clinical and radiological features of Robinow syndrome including butterfly vertebrae, posterior rib fusion, brachydactyly, nail hypoplasia, and retromicrognathia resulting in difficult endotracheal intubation in the intensive care setting. Rapid trio exome sequencing detected a novel homozygous likely pathogenic missense variant in the ROR2 gene, NM_004560.3:c.950A>G, p.(Tyr317Cys), for which both parents were heterozygous carriers. In-silico protein modeling predicted a deleterious effect on the function of the protein. We report an extreme premature infant with novel homozygous likely pathogenic variant in the ROR2 gene consistent with autosomal recessive Robinow syndrome. This case expands the phenotypic and genotypic spectrum of this disorder and highlights the benefit of performing rapid exome sequencing early during evaluation to aid in patient management and providing accurate genetic counseling to families.
Citation
McDermott H, Robinson HK, Caswell R, Gowda H, Offiah A, Naik S. Robinow syndrome in an extremely preterm infant: Novel homozygous ROR2 variant detected by rapid exome sequencing. Am J Med Genet A. 2022 Jan;188(1):298-303. doi: 10.1002/ajmg.a.62499. Epub 2021 Sep 24.
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