The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta

Journal of Bone and Mineral Metabolism

Volumn 30, Issue 1, 2012, Pages 69-77

  Zhang, Zhen Lin ^a   Zhang, Hao ^a   Ke, Yao Hua ^a   Yue, Hua ^a   Xiao, Wen Jin ^a   Yu, Jin Bo ^a   Gu, Jie Mei ^a   Hu, Wei Wei ^a   Wang, Chun ^a   He, Jin Wei ^a   Fu, Wen Zhen ^a  

^a SHANGHAI JIAO TONG UNIVERSITY   (China)

Author keywords

Collagen type I; LEPRE1; Mutation; Osteogenesis imperfecta

Indexed keywords

COLLAGEN TYPE 1; GLYCINE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLUE SCLERA; BONE DENSITY; CHILD; CHINESE; COHORT ANALYSIS; COL1A1 GENE; COL1A2 GENE; CRTAP GENE; FEMALE; FEMUR NECK; FRACTURE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE INSERTION; GENE MUTATION; HAPLOINSUFFICIENCY; HEARING LOSS; HETEROZYGOSITY; HUMAN; LEPRE1 GENE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OSTEOGENESIS IMPERFECTA; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SCLERA DISEASE; TRIPLE HELIX;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHINA; COLLAGEN TYPE I; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; FEMUR; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; OSTEOGENESIS IMPERFECTA; PROTEOGLYCANS; YOUNG ADULT;

EID: 84863337592     PISSN: 09148779     EISSN: 14355604     Source Type: Journal    
DOI: 10.1007/s00774-011-0284-6     Document Type: Article

References (23)

1. Stoll C, Dott B, Roth MP, Alembik Y (1989) Birth prevalence rates of skeletal dysplasias. Clin Genet 35:88-92 (Pubitemid 19062297)
2. Sillence DO, Rimoin DL (1978) Classification of osteogenesis imperfecta. Lancet 1:1041-1042
3. Hartikka H, Kuurila K, Körkkö J, Heini Hartikka H, Kuurila K, Körkkö J, Kaitila I, Grénman R, Pynnönen S, Hyland JC, Ala- Kokko L (2004) Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. Hum Mutat 24:147-154 (Pubitemid 39006594)
4. Kamoun-Goldrat A, Pannier S, Huber C, Finidori G, Munnich A, Cormier-Daire V, Le Merrer M (2008) A new osteogenesis imperfecta with improvement over time maps to 11q. Am J Med Genet Part A 146A:1807-1814 (Pubitemid 352000719)
5. Marini JC, Forlino A, Cabral WA et al (2007) Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat 28:209-221
6. Rauch F, Lalic L, Roughley P, Glorieux FH (2010) Relationship between genotype and skeletal phenotype in children and adolescents with osteogenesis imperfecta. J Bone Miner Res 25:1367-1374
7. Bodian DL, Chan TF, Poon A, Schwarze U, Yang K, Byers PH, Kwok PY, Klein TE (2009) Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. Hum Mol Genet 18:463-471
8. Cabral WA, Chang W, Barnes AM, Weis M, Scott MA, Leikin S, Makareeva E, Kuznetsova NV, Rosenbaum KN, Tifft CJ, Bulas DI, Kozma C, Smith PA, Eyre DR, Marini JC (2007) Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Nat Genet 39:359-365 (Pubitemid 46328489)
9. Morello R, Bertin TK, Chen Y et al (2007) CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell 127:291-304
10. Willaert A, Malfait F, Symoens S, Gevaert K, Kayserili H, Megarbane A,Mortier G, Leroy JG, Coucke PJ, De Paepe A (2009) Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation. J Med Genet 46:233-241
11. van Dijk FS, Nesbitt IM, Zwikstra EH et al (2009) PPIB mutations cause severe osteogenesis imperfecta. Am J Hum Genet 85:521-527
12. Alanay Y, Avaygan H, Camacho N et al (2010) Mutations in the gene encoding the RER protein FKBP65 cause autosomalrecessive osteogenesis imperfecta. Am J Hum Genet 86:551-559
13. Christiansen HE, Schwarze U, Pyott SM, AlSwaid A, Al Balwi M, Alrasheed S, Pepin MG, Weis MA, Eyre DR, Byers PH (2010) Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta. Am J Hum Genet 86:389-398
14. Lapunzina P, Aglan M, Temtamy S, Caparrós-Martín JA, Valencia M, Letón R, Martínez-Glez V, Elhossini R, Amr K, Vilaboa N, Ruiz-Perez VL (2010) Identification of a frameshift mutation in osterix in a patient with recessive osteogenesis imperfecta. Am J Hum Genet 87:110-114
15. Qin W, He JX, Shi J, Xing QH, Gao JJ, He L, Qian XQ, Liu ZJ, Shu AL, He L (2005) Mutation detection of COL1A1 gene in a pedigree with osteogenesis imperfecta. Acta Genet Sin 32:248-252 (Pubitemid 40602048)
16. Xia XY, Cui YX, Huang YF, Pan LJ, Yang B, Wang HY, Li XJ, Shi YC, Lu HY, Zhou YC (2008) A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family. Clin Chim Acta 398:148-151
17. Gao G, Zhang ZL, Zhang H, Hu WW, Huang QR, Lu JH, Hu YQ, Li M, Liu YJ, He JW, Gu JM, Yu JB (2008) The changes of hip axis length in 10544 males and females and the association with femoral neck fracture. J Clin Densitom 11:360-367
18. Lee KS, Song HR, Cho TJ, Kim HJ, Lee TM, Jin HS, Park HY, Kang S, Jung SC, Koo SK (2006) Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta. Hum Mutat 27:599
19. Kuuila K, Kaitila I, Johanssion R, Grénman R (2002) Hearing loss in Finnish adults with osteogenesis imperfecta: a nationwide survey. Ann Otol Rhinol Laryngol 111:939-946 (Pubitemid 35155071)
20. Ries-Levavi L, Ish-Shalom T, Frydman M, Lev D, Cohen S, Barkai G, Goldman B, Byers P, Friedman E (2004) Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients. Hum Mutat 23:399-400
21. Barnes AM, Chang W, Morello R, Cabral WA, Weis M, Eyre DR, Leikin S, Makareeva E, Kuznetsova N, Uveges TE, Ashok A, Flor AW, Mulvihill JJ, Wilson PL, Sundaram UT, Lee B, Marini JC (2006) Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N Engl J Med 355:2757-2764 (Pubitemid 46021513)
22. Baldridge D, Schwarze U, Morello R et al (2008) CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. Hum Mutat 29:1435-1442 (Pubitemid 352774897)
23. Obafemi A, Bulas D, Troendle J, Marini JC (2008) Popcorn calcification in osteogenesis imperfecta: incidence, progression, and molecular correlation. Am J Med Genet Part A 146A:2725-2732