COL27A1 encodes a collagen type XXVII alpha 1 chain. It is the product of this gene that provides the structural support of connective tissue and is reported to be the causative gene of Steel syndrome (OMIM #615155). The primary symptoms of patients with this defect are consistent with systemic bone disease; however, recent reports note findings of intellectual disability and hearing loss. In this study, we identified novel COL27A1 compound heterozygous variants in two brothers with rhizomelia and congenital hip dislocation as well as dental and genital abnormalities that have not yet been reported in Steel syndrome. This variant, of maternal origin, caused an amino acid substitution of arginine for glycine, c.2026G>C or p.G676R, in the collagen helix domain, which is assumed to damage the structure of the helix. The paternally transmitted variant, c.2367G>A, is located at the 3′ end of exon 12, and cDNA analysis revealed a splicing alteration. These novel, compound heterozygous COL27A1 variants might indicate an association of the gene with tooth and genital abnormalities.

COL27A1编码XXVII型胶原蛋白1链。该基因的产物提供结缔组织的结构支持，据报道是Steel综合征的致病基因（OMIM＃615155）。患有这种缺陷的患者的主要症状与全身性骨病相一致。但是，最近的报告指出了智力残疾和听力损失的发现。在这项研究中，我们确定了新型的COL27A1Steel综合征中尚未报道的两个兄弟中有根状茎和先天性髋关节脱位以及牙齿和生殖器异常的两个复合杂合变异体。这种源自母亲的变体在胶原蛋白螺旋结构域中导致精氨酸被甘氨酸的氨基酸取代（c.2026G> C或p.G676R），这被认为会破坏螺旋结构。父系传播的变体c.2367G> A位于外显子12的3'端，cDNA分析显示其剪接改变。这些新颖的复合杂合COL27A1变体可能表明该基因与牙齿和生殖器异常有关。