In the Research Review Osteogenesis Imperfecta: Clinical Diagnosis, Nomenclature and Severity Assessment Table I contained a number of errors in alignment of the rows for the Gene and Protein product. The corrected Table is included here.
Table I.
A New OI Nomenclature Combined With Causative Genes
| OI syndrome names | Type | Gene | MIM | Locus | Protein product | Inheritance |
|---|---|---|---|---|---|---|
| A: Phenotypes with mild to moderate severity | ||||||
| Non‐deforming OI with blue sclerae | 1 | 1. COL1A1 | #166200 | 17q21.33 | Collagen alpha‐1(I) chain | AD |
| 2. COL1A2 | #166200 | 7q22.3 | Collagen alpha‐2(I) chain | AD | ||
| Common variable OI with normal sclerae | 4 | 1. COL1A1 | #166220 | 17q21.33 | Collagen alpha‐1(I) chain | AD |
| 2. COL1A2 | #166220 | 7q22.3 | Collagen alpha‐2(I) chain | AD | ||
| 3. WNT1 a | #615220 | 12q13.12 | Wingless‐type MMTV integration site family, member 1 | AD | ||
| 1. CRTAP | #610682 | 3p22.3 | Cartilage‐associated protein (CRTAP) | AR | ||
| 2. PPIB | #259440 | 15q22.31 | Cyclophilin B (CyPB) | AR | ||
| 3. SP7 | #613849 | 12q13.13 | Osterix | AR | ||
| 1. PLS3 | #300910 | Xq23 | Plastin 3 | XL | ||
| OI with calcification in interosseous membranes | 5 | 1. IFITM5 | #610967 | 11p15.5 | Interferon‐induced transmembrane protein 5 | AD |
| B: Progressively deforming and perinatally lethal phenotypes | ||||||
| Progressively deforming | 3 | 1. COL1A1 | #259420 | 17q21.33 | Collagen alpha‐1(I) chain | AD |
| 2. COL1A2 | #259420 | 7q22.3 | Collagen alpha‐2(I) chain | AD | ||
| 1. BMP1 | #614856 | 8p21.3 | Bone morphogenetic protein 1 | AR | ||
| 2. CRTAP | #610682 | 3p22.3 | Cartilage‐associated protein (CRTAP) | AR | ||
| 3. FKBP10 | #610968 | 17q21.2 | Peptidyl‐prolyl cis‐transisomerase FKBP10 | AR | ||
| 4. LEPRE1 | #610915 | 1p34.2 | Prolyl 3‐hydroxylase 1 (P3H1) | AR | ||
| 5. PLOD2 c | #609220 | 3q24 | Procollagen‐lysine, 2‐oxoglutarate 5‐dioxygenase 2 | AR | ||
| 6. PPIB | #259440 | 15q22.31 | Cyclophilin B (CyPB) | AR | ||
| 7. SERPINF1 | #613982 | 17p13.3 | Pigment‐epithelium‐derived factor (PEDF) | AR | ||
| 8. SERPINH1 | #613848 | 11q13.5 | Heat shock protein 47 (HSP47) | AR | ||
| 9. TMEM38B | #615066 | 9q31.1 | Trimeric intracellular cation channel B (TRIC‐B) | AR | ||
| 10. WNT1 | #615220 | 12q13.12 | Wingless‐type MMTV integration site family, member 1 | AR | ||
| 11. CREB3L1 | 11q11 | Old astrocyte specifically induced substance (OASIS) | AR | |||
| Perinatally lethal OI | 2b | 1. COL1A1 | #166220 | 17q21.33 | Collagen alpha‐1(I) chain | AD |
| 2. COL1A2 | #166220 | 7q22.3 | Collagen alpha‐2(I) chain | AD | ||
| 1. CRTAP | #610682 | 3p22.3 | Cartilage‐associated protein (CRTAP) | AR | ||
| 2. LEPRE1 | #610915 | 1p34.2 | Prolyl 3‐hydroxylase 1 (P3H1) | AR | ||
| 3. PPIB | #259440 | 15q22.31 | Cyclophilin B (CyPB) | AR | ||
So far, 12 families with AR OI due to WNT1 mutations have been described. Developmental delay was reported in affected individuals from three families. It is uncertain whether this is part of the clinical phenotype resulting from WNT1 mutations [Fahiminiya et al., 2013; Keupp et al., 2013; Pyott et al., 2013]. A dominant WNT1 mutation appeared to cause early onset osteoporosis [Keupp et al., 2013; Laine et al., 2013].
In clinical practice, subdivisions OI type II‐A and OI type II‐B are still in use. OI type II‐A appears to be exclusively caused by heterozygous mutations in the COL1A1/2 genes [van Dijk et al., 2010].
It has been reported that mutations in PLOD2 may also result in progressively deforming OI [Puig‐Hervás et al., 2012].
The online version has been updated on 19 March 2015 to include all changes.
The Publisher regrets this error.
van Dijk FS, Sillence DO. 2015. Erratum to: Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A. 2014 Jun;164A(6):1470–1481. DOI: 10.1002/ajmg.a.36545. Am J Med Genet Part A 167A:1178–1178.