Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Department of Pediatric Orthopaedics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Eur J Med Genet. 2022 Jun;65(6):104521. doi: 10.1016/j.ejmg.2022.104521. Epub 2022 May 11.
Steel syndrome (MIM# 615155) is an autosomal recessive skeletal disorder, characterized by dislocations of the hips and radial heads, carpal coalition, short stature, facial dysmorphism, and scoliosis. Until date 47 patients have been reported. However, disease causing variants have been identified only in twenty Puerto Rican and nine non-Puerto Rican families. Here we report two monozygotic twins and a boy from two families with novel missense variants, c.295G > A p.(Ala99 Thr), c.3056C > A p.(Pro1019His) and c.2521G > A p.(Gly841Arg) in COL27A1. We describe for the first time, cleft palate and delayed carpal bone ossification as features of Steel syndrome. We reviewed clinical features in all mutation-proven Steel syndrome patients. Short stature and dislocation/subluxation of hip joint are consistently observed. Other features include dislocated radial heads, scoliosis, lordosis, carpal coalition, facial dysmorphism, hearing loss, bilateral fifth finger clinodactyly, knee deformities and developmental delay. Seven missense variants and eight null variants are reported in COL27A1 until date. We also looked into the genotype-phenotype correlation in Puerto Rican and non-Puerto Rican patients.
Steel 综合征（MIM#615155）是一种常染色体隐性骨骼疾病，其特征为髋关节和桡骨头脱位、腕骨融合、身材矮小、面部畸形和脊柱侧凸。迄今为止，已有 47 例患者报告。然而，仅在 20 个波多黎各家庭和 9 个非波多黎各家庭中发现了致病变异体。在这里，我们报告了两个来自两个家庭的同卵双胞胎和一个男孩，他们携带有新的错义变异体 c.295G>A p.(Ala99>Thr)、c.3056C>A p.(Pro1019His)和 c.2521G>A p.(Gly841Arg)，这些变异体位于 COL27A1 中。我们首次描述了腭裂和腕骨骨化延迟是 Steel 综合征的特征。我们回顾了所有经突变证实的 Steel 综合征患者的临床特征。身材矮小和髋关节脱位/半脱位是一致观察到的。其他特征包括桡骨头脱位、脊柱侧凸、脊柱前凸、腕骨融合、面部畸形、听力损失、双侧第五指弯曲、膝部畸形和发育迟缓。迄今为止，在 COL27A1 中已报道了 7 个错义变异体和 8 个无义变异体。我们还研究了波多黎各和非波多黎各患者的基因型-表型相关性。
