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Congenital cervical spine malformation due to bi‐allelic RIPPLY2 variants in spondylocostal dysostosis type 6
Clinical Genetics ( IF 2.9 ) Pub Date : 2021-01-07 , DOI: 10.1111/cge.13916
Meret Wegler 1 , Christian Roth 2 , Eckehard Schumann 3 , Jillene Kogan 4 , Ellen Totten 4 , Maria J Guillen Sacoto 5 , Rami Abou Jamra 1 , Frauke Hornemann 6
Affiliation  

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.

中文翻译:

双等位基因 RIPPLY2 变异导致的先天性颈椎畸形在 6 型脊椎肋骨发育不全中

RIPPLY2是胚胎发育过程中体节模式形成和建立喙尾极性的重要组成部分。在这里,我们描述了来自两个家族的三个个体,它们在RIPPLY2 (NM_001009994.2)中具有复合杂合变体:c.238A > T, p.(Arg80*) 和 c.240-4 T > G, p.(?),在两个 15 岁和 20 岁的姐妹中,以及一个 8 岁男孩的纯合无义变体,c.238A > T, p.(Arg80*)。所有患者均存在颈部和胸部多发椎体畸形、肋骨受累小或缺失、脊髓病和SCDO6的常见临床特征包括脊柱侧弯、轻度面部不对称、脊柱痉挛和半椎骨。根据 ACMG 标准,无义变体可以归类为可能致病,而剪接变体必须归类为意义未知的变体。通过这份关于另外两个家族的报告,我们确认RIPPLY2是 SCDO6 的基因,并通过将伴有或不伴有椎管狭窄和脊柱痉挛的脊髓病添加到症状谱中来扩大表型。
更新日期:2021-03-05
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