Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene

Proceedings of the National Academy of Sciences of the United States of America

Volumn 112, Issue 26, 2015, Pages 8064-8069

  Cai, Tao ^a   Yang, Liu ^b   Cai, Wanshi ^c   Guo, Sen ^a   Yu, Ping ^a   Li, Jinchen ^a   Hu, Xueyu ^b   Yan, Ming ^b   Shao, Qianzhi ^a   Jin, Yan ^d   Sun, Zhong Sheng ^a,c   Luo, Zhuo Jing ^b  

^a WENZHOU MEDICAL UNIVERSITY   (China)

^b FOURTH MILITARY MEDICAL UNIVERSITY   (China)

^c INSTITUTE OF GEOLOGY AND GEOPHYSICS   (China)

^d FOURTH MILITARY MEDICAL UNIVERSITY   (China)

Author keywords

Dysplastic spondylolysis; Lumbosacral spine; Solute carrier family 26 sulfate transporter; Spondylolisthesis; Whole exome sequencing

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; HEPATOCYTE NUCLEAR FACTOR 3BETA; ANION TRANSPORT PROTEIN; SLC26A2 PROTEIN, HUMAN;

ADULT; AGED; ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHO CELL LINE; CLINICAL ARTICLE; COHORT ANALYSIS; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; CRYSTAL STRUCTURE; EMBRYO; EXOME; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC DISORDER; GENETIC TRANSFECTION; GENOME; HAPLOTYPE; HETEROZYGOSITY; HUMAN; IN SITU HYBRIDIZATION; INTERVERTEBRAL DISK HERNIA; INTRON; LOW BACK PAIN; LUMBOSACRAL SPINE; MALE; MIDDLE AGED; MISSENSE MUTATION; MOUSE; MOUSE EMBRYO; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCULT SPINAL DYSRAPHISM; ONSET AGE; PATHOGENESIS; PATHOGENICITY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROGENY; SINGLE NUCLEOTIDE POLYMORPHISM; SLC26A2 GENE; SPONDYLOLISTHESIS; SPONDYLOLYSIS; VERTEBRAL CANAL STENOSIS; YOUNG ADULT; AMINO ACID SEQUENCE; ANIMAL; CHEMISTRY; GENETICS; MOLECULAR GENETICS; MUTATION; PATHOPHYSIOLOGY; PEDIGREE; SEQUENCE HOMOLOGY;

ADULT; AGED; AMINO ACID SEQUENCE; ANIMALS; ANION TRANSPORT PROTEINS; FEMALE; HUMANS; IN SITU HYBRIDIZATION; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SEQUENCE HOMOLOGY, AMINO ACID; SPONDYLOLYSIS;

EID: 84937921447     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1502454112     Document Type: Article

References (52)

1. Wiltse LL, Newman PH, Macnab I (1976) Classification of spondylolisis and spondylolisthesis. Clin Orthop Relat Res (117):23-29.
2. Standaert CJ, Herring SA (2000) Spondylolysis: A critical review. Br J Sports Med 34(6):415-422.
3. Yamada A, et al. (2013) Lumbar spondylolysis in juveniles from the same family: A report of three cases and a review of the literature. Case Rep Orthop 2013:272514.
4. Cavalier R, Herman MJ, Cheung EV, Pizzutillo PD (2006) Spondylolysis and spondylolisthesis in children and adolescents: I. Diagnosis, natural history, and nonsurgical management. J Am Acad Orthop Surg 14(7):417-424.
5. Fu KM, et al. (2011) Morbidity and mortality in the surgical treatment of six hundred five pediatric patients with isthmic or dysplastic spondylolisthesis. Spine 36(4):308-312.
6. nd Ed, pp 1211-1254.
7. Wiltse LL (1962) The etiology of spondylolisthesis. J Bone Joint Surg Am 44-A:539-560.
8. Sakai T, Sairyo K, Suzue N, Kosaka H, Yasui N (2010) Incidence and etiology of lumbar spondylolysis: review of the literature. J Orthop Sci 15(3):281-288.
9. Moke L, Debeer P, Moens P (2011) Spondylolisthesis in twins: Multifactorial etiology: A case report and review of the literature. Spine 36(11):E741-E746.
10. Amuso SJ, Mankin HJ (1967) Hereditary spondylolisthesis and spina bifida. Report of a family in which the lesion is transmitted as an autosomal dominant through three generations. J Bone Joint Surg Am 49(3):507-513.
11. Shahriaree H, Harkess JW (1970) A family with spondylolisthesis. Radiology 94(3):631-633.
12. Saha MM, Bhardwaj OP, Srivastava G, Pramanick A, Gupta A (1970) Osteopetrosis with spondylolysis - four cases in one family. Br J Radiol 43(514):738-740.
13. Haukipuro K, et al. (1978) Familial occurrence of lumbar spondylolysis and spondylolisthesis. Clin Genet 13(6):471-476.
14. Shahriaree H, Sajadi K, Rooholamini SA (1979) A family with spondylolisthesis. J Bone Joint Surg Am 61(8):1256-1258.
15. Martin RP, Deane RH, Collett V (1997) Spondylolysis in children who have osteopetrosis. J Bone Joint Surg Am 79(11):1685-1689.
16. Albanese M, Pizzutillo PD (1982) Family study of spondylolysis and spondylolisthesis. J Pediatr Orthop 2(5):496-499.
17. Rowe GG, Roche MB (1953) The etiology of separate neural arch. J Bone Joint Surg Am 35-A(1):102-110.
18. Stewart TD (1931) Incidence of separate neural arch in the lumbar vertebrae of Eskimos. Am J Phys Anthropol 16:51-62.
19. Yilmaz T, Turan Y, Gülşen I, Dalbayrak S (2014) Co-occurrence of lumbar spondylolysis and lumbar disc herniation with lumbosacral nerve root anomaly. J Craniovertebr Junction Spine 5(2):99-101.
20. Savarirayan R, et al. (2003) Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families. Am J Med Genet A 117A(2):136-142.
21. Mio F, et al. (2007) A functional polymorphism in COL11A1, which encodes the alpha 1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation. Am J Hum Genet 81(6):1271-1277.
22. Rose PS, et al. (2001) Thoracolumbar spinal abnormalities in Stickler syndrome. Spine 26(4):403-409.
23. Paassilta P, et al. (2001) Identification of a novel common genetic risk factor for lumbar disk disease. JAMA 285(14):1843-1849.
24. Denne C, et al. (2011) Lumbar disc herniation in three patients with cystic fibrosis: a case series. J Med Case Reports 5:440.
25. Maier JA, Lo Y, Harfe BD (2013) Foxa1 and Foxa2 are required for formation of the intervertebral discs. PLoS ONE 8(1):e55528.
26. Bonafé L, Mittaz-Crettol L, Ballhausen D, Superti-Furga A (1993) Diastrophic dysplasia. GeneReviews, eds Pagon RA, et al. (University of Washington, Seattle).
27. El Khouri E, Touré A (2014) Functional interaction of the cystic fibrosis transmembrane conductance regulator with members of the SLC26 family of anion transporters (SLC26A8 and SLC26A9): Physiological and pathophysiological relevance. Int J Biochem Cell Biol 52:58-67.
28. Pasqualetto E, et al. (2010) Structure of the cytosolic portion of the motor protein prestin and functional role of the STAS domain in SLC26/SulP anion transporters. J Mol Biol 400(3):448-462.
29. Ota H (1967) [Spondylolysis: Familial occurrence and its genetic implications]. Nippon Seikeigeka Gakkai Zasshi 41(8):931-941. Japanese.
30. Kleinberg S (1923) Spondylolisthesis. Ann Surg 77(4):490-495.
31. Hästbacka J, et al. (1994) The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell 78(6):1073-1087.
32. Dwyer E, Hyland J, Modaff P, Pauli RM (2010) Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. Am J Med Genet A 152A(12):3043-3050.
33. Macías-Gómez NM, Mégarbané A, Leal-Ugarte E, Rodríguez-Rojas LX, Barros-Núñez P (2004) Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: First report of a Mexican patient and genotype-phenotype correlation. Am J Med Genet A 129A(2):190-192.
34. Rossi A, Bonaventure J, Delezoide AL, Cetta G, Superti-Furga A (1996) Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter. J Biol Chem 271(31):18456-18464.
35. Bonafé L, et al. (2008) A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia. J Med Genet 45(12):827-831.
36. Czarny-Ratajczak M, et al. (2010) New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene. Am J Med Genet A 152A(12):3036-3042.
37. Hinrichs T, et al. (2010) Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene - phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: Case report. BMC Musculoskelet Disord 11:110.
38. Lamartina C, Zavatsky JM, Petruzzi M, Specchia N (2009) Novel concepts in the evaluation and treatment of high-dysplastic spondylolisthesis. Eur Spine J 18(Suppl 1):133-142.
39. Dirami T, et al. (2013) Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia. Am J Hum Genet 92(5):760-766.
40. Alper SL, Sharma AK (2013) The SLC26 gene family of anion transporters and channels. Mol Aspects Med 34(2-3):494-515.
41. Ko SB, et al. (2004) Gating of CFTR by the STAS domain of SLC26 transporters. Nat Cell Biol 6(4):343-350.
42. Rossini M, et al. (2004) Prevalence and correlates of vertebral fractures in adults with cystic fibrosis. Bone 35(3):771-776.
43. Lehmann K, et al. (2003) Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. Proc Natl Acad Sci USA 100(21):12277-12282.
44. Liu H, Tao H, Luo Z (2009) Validation of the simplified Chinese version of the Oswestry Disability Index. Spine 34(11):1211-1216, discussion 1217.
45. Wu J, Shen E, Shi D, Sun Z, Cai T (2012) Identification of a novel Cys146X mutation of SOD1 in familial amyotrophic lateral sclerosis by whole-exome sequencing. Genet Med 14(9):823-826.
46. Bi C, et al. (2012) Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility. Hum Mutat 33(12):1635-1638.
47. Li J, et al. (2015) Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database. Mol Psychiatry, 10.1038/mp.2015.40.
48. Geffers L, Herrmann B, Eichele G (2012) Web-based digital gene expression atlases for the mouse. Mamm Genome 23(9-10):525-538.
49. Mégarbané A, et al. (1999) Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia. Clin Genet 56(1):71-76.
50. Superti-Furga A, et al. (1999) Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. J Med Genet 36(8):621-624.
51. Czarny-Ratajczak M, et al. (2001) A mutation in COL9A1 causes multiple epiphyseal dysplasia: Further evidence for locus heterogeneity. Am J Hum Genet 69(5):969-980.
52. Francis-West PH, et al. (1999) Mechanisms of GDF-5 action during skeletal development. Development 126(6):1305-1315.