Osteogenesis imperfecta

Definition:

Osteogenesis imperfecta (OI) is characterized by an inherited bone fragility mainly caused by mutations in type I collagen. Poor teeth development, blue sclerae and hearing impairment also manifest in individuals with OI. Mutations in the other genes have been recently identified.

References:

[1]. Aileen M Barnes, et al. Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix. Hum Mutat. 2012 Nov;33(11):1589-98. [Content Brief]

[2]. F S Van Dijk, et al. Classification of Osteogenesis Imperfecta revisited. Eur J Med Genet. 2010 Jan-Feb;53(1):1-5. [Content Brief]

[3]. Fleur S van Dijk, et al. Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2. Am J Hum Genet. 2020 Nov 5;107(5):989-999. [Content Brief]

[4]. Fleur S van Dijk, et al. PPIB mutations cause severe osteogenesis imperfecta. Am J Hum Genet. 2009 Oct;85(4):521-7. [Content Brief]

[5]. Helena E Christiansen, et al. Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta. Am J Hum Genet. 2010 Mar 12;86(3):389-98. [Content Brief]

[6]. Johanne Dubail, et al. Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta. J Bone Miner Res. 2020 Aug;35(8):1470-1480. [Content Brief]

[7]. Jutta Becker, et al. Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet. 2011 Mar 11;88(3):362-71. [Content Brief]

[8]. Laetitia Michou, et al. Genetics of bone diseases: Paget's disease, fibrous dysplasia, osteopetrosis, and osteogenesis imperfecta. Joint Bone Spine. 2011 May;78(3):252-8. [Content Brief]

[9]. Mathilde Doyard, et al. FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta. J Med Genet. 2018 Apr;55(4):278-284. [Content Brief]

[10]. Michael Volodarsky, et al. A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta. Hum Mutat. 2013 Apr;34(4):582-6. [Content Brief]

[11]. P V Asharani, et al. Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish. Am J Hum Genet. 2012 Apr 6;90(4):661-74. [Content Brief]

[12]. Pablo Lapunzina, et al. Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta. Am J Hum Genet. 2010 Jul 9;87(1):110-4. [Content Brief]

[13]. Rachel B Keller, et al. Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively. Genet Med. 2018 Apr;20(4):411-419. [Content Brief]

[14]. Roberto Mendoza-Londono, et al. Recessive osteogenesis imperfecta caused by missense mutations in SPARC. Am J Hum Genet. 2015 Jun 4;96(6):979-85. [Content Brief]

[15]. Roy Morello, et al. CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell. 2006 Oct 20;127(2):291-304. [Content Brief]

[16]. Shahida Moosa, et al. Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta. Am J Hum Genet. 2019 Oct 3;105(4):836-843. [Content Brief]

[17]. Somayyeh Fahiminiya, et al. Mutations in WNT1 are a cause of osteogenesis imperfecta. J Med Genet. 2013 May;50(5):345-8. [Content Brief]

[18]. Tae-Joon Cho, et al. A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V. Am J Hum Genet. 2012 Aug 10;91(2):343-8. [Content Brief]

[19]. Uschi Lindert, et al. MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. Nat Commun. 2016 Jul 6;7:11920. [Content Brief]

[20]. Wayne A Cabral, et al. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Nat Genet. 2007 Mar;39(3):359-65. [Content Brief]

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