Spondyloepimetaphyseal dysplasias (SEMDs), which comprise a heterogeneous group of autosomal-dominant, autosomal-recessive and X-linked recessive disorders, are characterized by anomalies of the spine, the epiphyses and metaphyses of the long bones, resulting in short stature and osteoarthritic changes of the joints. UFSP2 gene encodes a highly conserved cysteine protease which cleaves two C-terminal residues from ubiquitin-fold modifier 1, an ubiquitin-like post-translational modifier protein. In 2018, Di Rocco, M reported for the first time that a novel heterozygous variant exon 11: c.1277A > C of the UFSP2 gene was the cause to spondyloepimetaphyseal dysplasia mainly manifested as: short stature, anterior vertebral dysplasia, hip dysplasia, flat vertebra, spinal metaphyseal dysplasia, irregular acetabular apex, distal femoral metaphyseal dysplasia, proximal tibial metaphyseal dysplasia, osteoarthritis and so on. In this report, we describe a boy with spondyloepimetaphyseal dysplasia due to a novel mutation exon 11: c.1283A > G (leading to p. H428R) of the UFSP2 gene. This is the second report to describe children with SEMDs associated with an UFSP2 variant. However, it is the first to describe a UFSP2 gene mutation exon 11: c.1283A > G (leading to p. H428R). Our findings of a novel heterozygous mutation of UFSP2 gene add to the list of 2 reported heterozygous mutations of UFSP2 which led to hereditary osteopathy.

脊柱干met端发育异常（SEMD）包括常染色体显性，常染色体隐性和X连锁隐性疾病的异质性组，其特征是脊柱，长骨的骨phy和干meta端异常，导致身材矮小和骨关节炎的关节。UFSP2基因编码高度保守的半胱氨酸蛋白酶，该酶可从泛素折叠修饰物1（一种泛素样翻译后修饰物蛋白）切割两个C末端残基。在2018年，Di Rocco，M首次报道了一种新型的杂合变体外显子11：UFSP2的c.1277A> C该基因是导致脊椎骨干met端发育不良的原因，主要表现为：身材矮小，椎体前段发育不良，髋关节发育不良，椎骨扁平，脊柱干端发育不良，髋臼尖部不规则，股骨干phy端发育不良，胫骨近端so骨化生，胫骨近端and骨化生。在此报告中，我们描述了由于新的外显子11突变：UFSP2基因的c.1283A> G（导致p。H428R）而导致的脊椎干met端发育异常的男孩。这是第二份描述与UFSP2变异相关的SEMD儿童的报告。但是，它是第一个描述UFSP2基因突变外显子11的人：c.1283A> G（导致p。H428R）。我们发现的新型UFSP2杂合突变该基因增加到2个已报告的UFSP2杂合突变列表中，导致遗传性骨病。