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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessOsteogenesis imperfecta, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Osteogenesis imperfecta comprising 16 guideline-curated and altogether 39 curated genes according to the clinical signs

ID
OP0100
Number of genes
33 Accredited laboratory test
Examined sequence length
28,9 kb (Core-/Core-canditate-Genes)
66,2 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
BMP12961AD
COL1A14395AD
COL1A24101AD
CREB3L11560AD
CRTAP1206AR
FKBP101749AR
IFITM5399AD
P3H12211AR
P4HB1540AD
PLOD22277AR
PPIB651AD
SERPINF11257AD, AR
SERPINH11257AR
SP71296AR
TMEM38B876AD
WNT11113AD, AR
ALPL1575AD, AR
B3GALT6990AR
B4GALT7984AR
CASR3237AD, AR
COPB22743AR
GORAB1185AR
LRP54848AD, AR
MBTPS21560XLR
MESD705AR
NBAS7116AR
NUDT6951AR
PLS31893AD
SEC24D3099AD
SPARC1037AR
TAPT11745AR
TENT5A1368AD
TRPV62313AR

Informations about the disease

Clinical Comment

Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders with increased bone fragility, low bone mass and susceptibility to fractures of varying degrees of severity, sometimes even prenatally. At least 20 forms of OI are recognised and several types are distinguished by their symptoms, although characteristic features also overlap. Increasingly, mutated genes are used to define rarer OI forms. Type I is the mildest form and is known as classical non-deforming OI with blue sclerae. Type II (also known as perinatal lethal) is the most severe form. Other forms, including types III (progressively deforming OI) and IV (frequent variable OI with normal sclerae), have symptoms that lie between the above extremes. In addition to all classic hereditary forms (with variable expressivity), some of the most severe OI forms also or only after sporadic new mutations. Mutations in the COL1A1 (5-70%) and COL1A2 (5-30%) genes make up by far the largest proportion of OI causes. The diagnostic yield of OI is very high, especially with a large panel 98% and more clear diagnostic statements can be achieved.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1295/

https://www.ncbi.nlm.nih.gov/books/NBK540447/

 

Synonyms
  • Alias: Brittle bone disease
  • Alias: Glass bone disease
  • Alias: Lobstein disease
  • Alias: Osteopsathyrosis
  • Allelic: Bone mineral density variability 1 (LRP5)
  • Allelic: Bone mineral density variation QTL, osteoporosis (COL1A1)
  • Allelic: Deafness, AD 39, with dentinogenesis (DSPP)
  • Allelic: Exudative vitreoretinopathy 4 (LRP5)
  • Allelic: Hyperostosis, endosteal (LRP5)
  • Allelic: IFAP syndrome with/-out BRESHECK syndrome (MBTPS2)
  • Allelic: Keratosis follicularis spinulosa decalvans, XL (MBTPS2)
  • Allelic: Microcephaly 19, primary, AR (COPB2)
  • Allelic: Olmsted syndrome, XL (MBTPS2)
  • Allelic: Osteopenia [panelapp] (SUCO)
  • Allelic: Osteoporosis (LRP5)
  • Allelic: Osteoporosis, early-onset, susceptibility to, AD (WNT1)
  • Allelic: Osteoporosis-pseudoglioma syndrome (LRP5)
  • Allelic: Osteosclerosis (LRP5)
  • Allelic: Polycystic liver disease 4 with/-out kidney cysts (LRP5)
  • Allelic: Preterm premature rupture of the membranes, susceptibility to (SERPINH1)
  • Allelic: Skeletal dysplasia [HP:0002652, panelapp] (SUCO)
  • Allelic: Skeletal dysplasias [panelapp] (NOTCH2)
  • Allelic: van Buchem disease, type 2 (LRP5)
  • Bruck syndrome 1 (FKBP10)
  • Caffey disease (COL1A1)
  • Cole-Carpenter syndrome 1 (P4HB)
  • Dentin dysplasia, type II (DSPP)
  • Dentinogenesis imperfecta, Shields type II (DSPP)
  • Dentinogenesis imperfecta, Shields type III (DSPP)
  • Ehlers-Danlos syndrome, arthrochalasia type, 1 (COL1A1)
  • Ehlers-Danlos syndrome, arthrochalasia type, 2 (COL1A2)
  • Ehlers-Danlos syndrome, cardiac valvular type (COL1A2)
  • Hyperparathyroidism, transient neonatal (TRPV6)
  • Microcephaly 19, primary, AR (COPB2)
  • No fracture [panelapp] (DSPP)
  • Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (TAPT1)
  • Osteogenesis imperfecta + decreased bone density [panelapp] (NOTCH2)
  • Osteogenesis imperfecta [MONDO:0019019, panelapp] (SUCO)
  • Osteogenesis imperfecta, type I-IV (COL1A1)
  • Osteogenesis imperfecta, type II-IV (COL1A2)
  • Osteogenesis imperfecta, type V (IFITM5)
  • Osteogenesis imperfecta, type VI (SERPINF1)
  • Osteogenesis imperfecta, type VII (CRTAP)
  • Osteogenesis imperfecta, type VIII (P3H1 syn. LEPRE1)
  • Osteogenesis imperfecta, type X (SERPINH1)
  • Osteogenesis imperfecta, type XI (FKBP10)
  • Osteogenesis imperfecta, type XII (SP7)
  • Osteogenesis imperfecta, type XIII (BMP1)
  • Osteogenesis imperfecta, type XIV (TMEM38B)
  • Osteogenesis imperfecta, type XIX (MBTPS2)
  • Osteogenesis imperfecta, type XV (WNT1)
  • Osteogenesis imperfecta, type XVI (CREB3L1)
  • Osteogenesis imperfecta, type XVII (SPARC)
  • Osteogenesis imperfecta, type XVIII (TENT5A syn. FAM46A)
  • Osteogenesis imperfecta, type XX (MESD)
  • Osteogenesis imperfecta, type XXI (KDELR2)
  • Osteootohepatoenteric syndrome (UNC45A)
  • Osteopetrosis, AD 1 (LRP5)
  • Osteoporosis, childhood- or juvenile-onset, with developmental delay (COPB2)
  • Osteoporosis, postmenopausal (COL1A2)
  • Recurr. fractures, add. skelet. signs, short-limb dwarfism, bowed legs, scoliosis [panelapp] (NUDT6)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q78.0

Bioinformatics and clinical interpretation

No text defined