Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta

Orphanet Journal of Rare Diseases

Shuan-Pei Lin²  Dau-Ming Niu⁵  Hui-Chin Chiu³  Ming-Ren Chen²  Yi-Ning Su⁴  Chih-Kuang Chuang¹  Hsiang-Yu Lin⁶ 

[1] Institute of Biotechnology, National Taipei University of Technology, Taipei, Taiwan;Mackay Medicine, Nursing and Management College, Taipei, Taiwan;Department of Pediatrics, Mackay Memorial Hospital, No. 92, Sec. 2, Chung-Shan North Road, Taipei 10449, Taiwan;Department of Obstetrics and Gynecology, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan;Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan;Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan

关键词: Phenotype;    Osteogenesis imperfecta;    Height;    Genotype;    Bone mineral density;   

Others  :  1234878
DOI  :  10.1186/s13023-015-0370-2

 received in 2015-08-28, accepted in 2015-11-22,  发布年份 2015

【 摘 要 】

Background

Osteogenesis imperfecta (OI) is a congenital disorder characterized by increased bone fragility and low bone mass.

Methods

The presence of COL1A1 or COL1A2 mutation was investigated by direct sequencing in 72 patients with OI type I, III, or IV (27 males and 45 females; age range 0.2-62 years) from 37 unrelated families. The clinical features of these patients were also recorded.

Results

Thirty-seven COL1A1 and COL1A2 mutations were identified, including 28 COL1A1 mutations and 9 COL1A2 mutations. Fifteen (41 %) were novel mutations, and twelve (32 %) were familial mutations. A review of their medical records revealed that the 72 patients could be classified into OI type I (n = 42), III (n = 5), and IV (n = 25). Twenty-nine patients had helical mutations (caused by the substitution of a glycine within the Gly-X-Y triplet domain of the triple helix), and 42 had haploinsufficiency mutations (caused by frameshift, nonsense, and splice-site mutations). Compared with haploinsufficiency, the patients with helical mutations had more severely impaired skeletal phenotypes, including shorter height, lower bone mineral density, poorer walking ability, more frequent manifestations of dentinogenesis imperfecta and scoliosis (p < 0.05).

Conclusions

Genotype and phenotype databases are expected to promote better genetic counseling and medical care of patients with OI.

【 授权许可】

   
2015 Lin et al.

【 图 表 】

Fig. 1.

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