A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012

Orphanet Journal of Rare Diseases

Jinxiang Han¹  Xiaoyan Zhou¹  Jing Luan¹  Chao Liu¹  Zhenxing Liu¹  Heng Zhao¹  Yazhou Cui¹ 

[1] Key Laboratory for Biotech Drugs of the Ministry of Health, Key Laboratory for Rare Disease Research of Shandong Province, Jinan, 250062, China

关键词: Bibliographic study;    China;    Genetic skeletal diseases;    Rare diseases;   

Others  :  864267
DOI  :  10.1186/1750-1172-7-55

 received in 2012-03-27, accepted in 2012-08-20,  发布年份 2012

【 摘 要 】

Little information is available on the prevalence, geographic distribution and mutation spectrum of genetic skeletal disorders (GSDs) in China. This study systematically reviewed GSDs as defined in “Nosology and Classification of genetic skeletal disorders (2010 version)” using Chinese biomedical literature published over the past 34 years from 1978 to 2012. In total, 16,099 GSDs have been reported. The most frequently reported disorders were Marfan syndrome, osteogenesis imperfecta, fibrous dysplasia, mucopolysaccharidosis, multiple cartilaginous exostoses, neurofibromatosis type 1 (NF1), osteopetrosis, achondroplasia, enchondromatosis (Ollier), and osteopoikilosis, accounting for 76.5% (12,312 cases) of the total cases. Five groups (group 8, 12, 14, 18, 21) defined by “Nosology and Classification of genetic skeletal disorders” have not been reported in the Chinese biomedical literature. Gene mutation testing was performed in only a minor portion of the 16,099 cases of GSDs (187 cases, 1.16%). In total, 37 genes for 41 different GSDs were reported in Chinese biomedical literature, including 43 novel mutations. This review revealed a significant imbalance in rare disease identification in terms of geographic regions and hospital levels, suggesting the need to create a national multi-level network to meet the specific challenge of care for rare diseases in China.

【 授权许可】

   
2012 Cui et al.; licensee BioMed Central Ltd.

【 图 表 】

【 参考文献 】

• [1]Zelzer E, Olsen BR: The genetic basis for skeletal diseases. Nature 2003, 423:343-348.
• [2]Makitie O: Molecular defects causing skeletal dysplasias. Endocr Dev 2011, 21:78-84.
• [3]Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, Mortier G, Mundlos S, Nishimura G, Rimoin DL, et al.: Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A 2011, 155A:943-968.
• [4]Xia J, Wright J, Adams CE: Five large Chinese biomedical bibliographic databases: accessibility and coverage. Health Info Libr J 2008, 25:55-61.
• [5]Wang JB, Guo JJ, Yang L, Zhang YD, Sun ZQ, Zhang YJ: Rare diseases and legislation in China. Lancet 2010, 375:708-709.
• [6]Han JX, Cui YZ, Zhou XY: Rare diseases research in China: Opportunities, challenges, and solutions. Intractable Rare Dis Res 2012, 1:10-12.
• [7]Zhang YJ, Wang YO, Li L, Guo JJ, Wang JB: China’s first rare-disease registry is under development. Lancet 2011, 378:769-770.
• [8]Aymé S, Gonthier C: Prevalence of rare diseases: Bibliographic data. Orphanet Report Series, Rare Diseases collection 2011, 1:1-29.
• [9]Zhou QH, Ling CQ, Bai YJ, Yin HX: Journal selection and indexing for Index Medicus and Chinese periodicals indexed in Index Medicus. Zhong Xi Yi Jie He Xue Bao 2005, 3:70-78.
• [10]Pace JM, Chitayat D, Atkinson M, Wilcox WR, Schwarze U, Byers PH: A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases. J Med Genet 2002, 39:23-29.
• [11]Liu Y: China’s public health-care system: facing the challenges. Bull World Health Organ 2004, 82:532-538.
• [12]Ayme S, Schmidtke J: Networking for rare diseases: a necessity for Europe. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 2007, 50:1477-1483.
• [13]Black AP, Baker M: The impact of parent advocacy groups, the Internet, and social networking on rare diseases: the IDEA League and IDEA League United Kingdom example. Epilepsia 2011, 52(Suppl 2):102-104.