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Dysplastic Spondylolysis Is Caused by Mutations in the Diastrophic Dysplasia Sulfate Transporter Gene

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Dysplastic Spondylolysis Is Caused by Mutations in the Diastrophic Dysplasia Sulfate Transporter Gene Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene Tao Caia,1,2, Liu Yangb,1, Wanshi Caic, Sen Guoa, Ping Yua, Jinchen Lia, Xueyu Hub, Ming Yanb, Qianzhi Shaoa, Yan Jind, Zhong Sheng Suna,c, and Zhuo-Jing Luob,2 aInstitute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325000, China; bInstitute of Orthopaedics, Xijing Hospital, Fourth Military Medical University, Xi’an 710000, China; cBeijing Institutes of Life Science, Chinese Academy of Sciences, Beijing 100000, China; and dSchool of Stomatology, Fourth Military Medical University, Xi’an 710000, China Edited by C. Thomas Caskey, Baylor College of Medicine, Houston, TX, and approved May 21, 2015 (received for review February 5, 2015) Spondylolysis is a fracture in part of the vertebra with a reported (1, 3, 10–15) or autosomal recessive form (12, 15). Moreover, the prevalence of about 3–6% in the general population. Genetic etiol- reported incidence of spondylolysis and spondylolisthesis in ogy of this disorder remains unknown. The present study was aimed family members of index patients was 22% (16), compared with at identifying genomic mutations in patients with dysplastic spon- 8% in the general population (17), suggesting it is genetically dylolysis as well as the potential pathogenesis of the abnormalities. heterogeneous. Interestingly, spondylolysis was found to be very Whole-exome sequencing and functional analysis were performed frequent in Alaskan Eskimos (18). for patients with spondylolysis. We identified a novel heterozygous Spondylolysis may be present as a single entity or it may mutation (c.2286A > T; p.D673V) in the sulfate transporter gene present as just one of many signs or symptoms. In the latter case, SLC26A2 patients with spondylolysis may also show spina bifida occulta, in five affected subjects of a Chinese family. Two additional ’ mutations (e.g., c.1922A > G; p.H641R and g.18654T > Cintheintron scoliosis, spondylolisthesis, disk herniation, Scheuermann s dis- 1) in the gene were identified by screening a cohort of 30 unrelated ease (8, 19), or a combination of several other nonskeletal patients with the disease. In situ hybridization analysis showed that related disorders. In particular, dysplastic spondylolysis with SLC26A2 is abundantly expressed in the lumbosacral spine of the spondylolisthesis was also found, as an accompanying sign, in several patients with autosomal dominant brachydactyly (OMIM mouse embryo at day 14.5. Sulfate uptake activities in CHO cells ID 113100). The genetic cause of the syndrome was identified transfected with mutant SLC26A2 were dramatically reduced com- to be the frameshift mutation insG206 in the growth differen- pared with the wild type, confirming the pathogenicity of the two GDF5 – tiation factor 5 ( ) (also known as cartilage-derived mor- missense mutations. Further analysis of the gene disease network phogenetic protein-1, CDMP-1)(20).Thisgeneisamember revealed a convergent pathogenic network for the development of of the bone morphogenetic protein (BMP) family in the TGF- lumbosacral spine. To our knowledge, our findings provide the first beta superfamily, which plays an important role in skeletal SLC26A2 identification of autosomal dominant mutations in patients development. with dysplastic spondylolysis, suggesting a new clinical entity in the Several other genes involving chondrocyte growth and pro- pathogenesis of chondrodysplasia involving lumbosacral spine. liferation were also linked to developmental disorders in lumbar The analysis of the gene–disease network may shed new light on spine. Functional variants in the Col11a1 gene, which encodes the study of patients with dysplastic spondylolysis and spondylolis- thesis as well as high-risk individuals who are asymptomatic. Significance dysplastic spondylolysis | spondylolisthesis | lumbosacral spine | Spondylolysis is a crack in part of a vertebra that occurs in solute carrier family 26 sulfate transporter | whole-exome sequencing 3–6% of the general population. The cracked vertebra sometimes slips forward over the vertebra below it, resulting in spondylo- pondylolysis is defined as a defect in the pars interarticularis listhesis and lower-back pain. Although inherited spondylolysis Sof the vertebral arch (1, 2). The occurrence of spondylolysis in has long been described, the genetic etiology of these disor- Asian and Caucasian populations has been reported to be about ders remains unclear. Studies of families with autosomal- – – 3 6% (2, 3). Dysplastic spondylolysis (i.e., Wiltse Newman type I) dominant mutations provide a unique means to investigate the represents a type of congenital defect of vertebral pars inter- pathogenesis of spondylolysis, which can also be used as bio- articularis in the upper sacrum and lower lumbar, commonly af- markers, even during the asymptomatic period. This research fecting L5 (1). This type of spondylolysis is not rare, comprising identified two novel missense mutations in independent fam- 14–21% of cases in a large sample population (4). Among 605 ilies that were located at the conserved Stas domain. Func- pediatric patients who underwent surgical treatment for spondy- tional analyses demonstrated that sulfate uptake activities of lolisthesis in multisurgeon centers from 2004 to 2007, 10% of mutant SLC26A2 were significantly reduced. This study sug- them were affected by dysplastic spondylolysis (5). An alternative gests that the pathogenesis of chondrodysplasia is associated classification system was proposed with two broad categories (6): with dysplastic spondylolysis. developmental spondylolysis and acquired spondylolysis. The de- velopmental category includes disorders resulting from an in- Author contributions: T.C., Y.J., Z.S.S., and Z.-J.L. designed research; L.Y., W.C., and S.G. performed research; T.C., L.Y., W.C., S.G., P.Y., J.L., X.H., M.Y., Q.S., Y.J., Z.S.S., and Z.-J.L. herited dysplasia of the pars, lumbar facets, disks, or vertebral analyzed data; and T.C. and Z.-J.L. wrote the paper. endplates. This classification combines the dysplastic and isthmic The authors declare no conflict of interest. categories of Wiltse–Newman. Because of the dysplasia inherent This article is a PNAS Direct Submission. in this condition, there is often insufficient strength to withstand Data deposition: Exome sequence data related to this study have been deposited in the the forward thrust and the last free lumbar vertebra gradually slips Institute of Genomic Medicine at Wenzhou Medical University database, 122.228.158.106/ forward on the one below, thereby resulting in spondylolisthesis 20150521PANSdata. [Online Mendelian Inheritance in Man (OMIM) ID 184200]. 1T.C. and L.Y. contributed equally to this work. The genetic background for lumbar spondylolysis has been 2To whom correspondence may be addressed. Email: [email protected] or zjluo@fmmu. previously studied and extensively reviewed (7–9). Inherited edu.cn. spondylolysis and spondylolisthesis have been also identified in This article contains supporting information online at www.pnas.org/lookup/suppl/doi:10. many families of different races, either in autosomal dominant 1073/pnas.1502454112/-/DCSupplemental. 8064–8069 | PNAS | June 30, 2015 | vol. 112 | no. 26 www.pnas.org/cgi/doi/10.1073/pnas.1502454112 Downloaded by guest on September 25, 2021 the α1 chain of type XI collagen, are associated with lumbar disk herniation (21). Mutations in this gene also cause type II Stickler syndrome (OMIM ID 604841), which includes spinal abnor- malities such as spondylolisthesis, scoliosis, and hyperkyphosis (22). Moreover, three collagen IX encoded genes were also found to be common genetic risk factors for lumbar disk disease (23). In addition, a case report described lumbar disk herniation in patients with cystic fibrosis (24), which resulted from muta- tions in the CFTR gene. Despite these findings, the etiology and pathogenesis of lumbar spondylolysis remain unclear. To identify the potential genetic defects of this disorder, we applied whole-exome se- quencing (WES) and bioinformatics for recently recruited pa- tients with spondylolysis and associated spondylolisthesis. In the present study, we report the identification of heterozygous mutations in the solute carrier family 26 sulfate transporter (SLC26A2) gene in patients with the disease and show the ex- pression pattern of SLC26A2 in developing lumbosacral spine. We also present functional alterations, in terms of sulfate up- take, of these mutants in CHO cells. Furthermore, we discuss potential relations between chondrodysplasia-related genes and dysplastic spondylolysis-associated disorders. Results Phenotype Details. As shown in the three-generation pedigree chart (Fig. 1A), four progenies (II-2, II-3, III-1, and III-2) of the two ancestors of the XAHT01 family were referred for evalua- tion of back and lower left extremity pain. None of the symptoms was attributed to sport activities. The pattern of inheritance is consistent with the autosomal dominant form. The age of onset for showing symptoms of spondylolysis and spondylolisthesis, such as lower back pain, is variable, ranging from 19 y for the proband (III-2) to 41 y for the subject II-3. Clinical manifesta- Fig. 1. Pedigree and radiographic analysis. (A) Pedigree chart of a family with tions and radiological examinations from each of the family autosomal dominant spondylolysis. Filled symbols represent affected subjects. members are summarized in Table 1. X-ray and computed to- Squares signify male
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