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Welcome![edit]

Hello, JillianSherer, and welcome to Wikipedia! My name is Ian and I work with the Wiki Education Foundation; I help support students who are editing as part of a class assignment.

I hope you enjoy editing here. If you haven't already done so, please check out the student training library, which introduces you to editing and Wikipedia's core principles. You may also want to check out the Teahouse, a community of Wikipedia editors dedicated to helping new users. Below are some resources to help you get started editing.

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If you have any questions, please don't hesitate to contact me on my talk page. Ian (Wiki Ed) (talk) 18:49, 5 September 2018 (UTC)[reply]

Welcome[edit]

Welcome to Wikipedia and Wikiproject Medicine

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Once again, welcome, and thank you for joining us! Please share these guidelines with other new editors.

– the WikiProject Medicine team Doc James (talk · contribs · email) 22:28, 24 October 2018 (UTC)[reply]

Content[edit]

Can you please work on this content per the above and than once better you can restore it. Thanks Doc James (talk · contribs · email) 22:29, 24 October 2018 (UTC)[reply]

= Genetics[edit]

Osteogenesis imperfecta is a genetic disorder generally caused by dominant mutations in the COL1A1 and COL1A2 genes found on chromosome 17. These dominant mutations cause defects in the formation of collagen 1 which is responsible for the strengthening of bone. A component of collagen 1 is produced by the COL1A1 gene known as the pro-alpha1 chain.[1]Therefore, if there are mutations in the pro-alpha1 chain, the likely hood of a child being born with Osteogenesis Imperfecta is increased. Another version of the disease is caused by autosomal recessive mutations in several genes including CRTAP, BMP1, CREB3L1, IFITM5, FKBP10, LEPRE1, PPIB, SP7, PLOD2, TMEM38B, SERPINF, SERPINH1, SEC24D, SPARC, and WNT1.[1] These autosomal recessive mutations are responsible for causing defects in the proteins that interact with collagen. [1]This causes them to be less responsible in causing severe cases of Osteogenesis Imperfecta. However, the SERPINH1 gene has been known to produce autosomal recessive versions of OI especially when seen in the homozygous state.[2] A study was done in ancestral family members who showed symptoms of OI and it was seen that those individuals had the homozygous allelic frequency and therefore, had the disorder.[2] Although extremely rare, there have been a few reported cases of an X-linked version of OI. A pedigree from Thailand was analyzed in which 6 of the 12 males were affected with OI.[3] All of these males had been susceptible to bone fractures since gestation and exhibited a majority of the symptoms of OI. The mothers of all 6 of the males exhibited heterozygous allelic frequencies for a mutation in the genes responsible for causing OI.[3] All of these males developed either OI type III or IV which shows that the X-linked version of the disorder is increasingly more volatile than both the dominant and the recessive forms of the disease.[3] In another study done on X-linked OI showed that several individuals had a variant (rs140121121) in the PLS3 gene which is extremely rare and could be one of the reasons that X-linked OI is also rare.[4]The PLS3 gene is responsible for forming a bone-regulatory protein.[4] In the dominant form of the disorder, it has been seen that a WNT1 homozygous frameshift mutation as well as a single, recurrent nucleotide mutation in the IFITM5 gene are both located at the most 5’ end of their occurring DNA sequences.[1][5] As a result of the location of these mutations, it has been hypothesized that 5’ mutations in genes related to bone growth and development are likely one of the main causes of severe OI.

References

  1. ^ a b c d Keptanon, Chulaluck (16 July 2018). "The most 5' truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfect with a variable degree of brain anomalies: a case report". BMC Medical Genetics. 19:117.
  2. ^ a b Becker, Jutta (11 March 2011). "Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta". Am J Hum Genet. 88(3).
  3. ^ a b c Lindert, Uschi (6 July 2016). "MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfect". natureresearch. 7(11920).
  4. ^ a b Fleur, Van Dijk (17 October 2013). "PLS3 Mutations in X-Linked Osteoporosis with Fractures". The New England Journal of Medicine. 369(16): 1529–1536 – via ProQuest.
  5. ^ Cho, Tae-Joon (10 August 2012). "A Single Recurrent Mutation in the 5'-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V". Am J Hum Genet. 91(2): 343–348 – via PMC.

Okay will run through it[edit]

Genetic influences[edit]

Osteogenesis Imperfecta is a genetic disorder that is caused by dominant mutations in the COL1A1 and COL1A2 genes found on chromosome 17.[1]

  • This is a primary source. It is a case report. Please read WP:MEDRS

These dominant mutations cause defects in the formation of collagen 1 which is responsible for the strengthening of bone.[1] A component of collagen 1 is produced by a section of the COL1A1 gene referred to as the pro-alpha1 chain. Children born with mutations in the pro-alpha1 chain, have a greater chance of being born with Osteogenesis Imperfecta.[1] alternate versions of the disease are caused by autosomal recessive mutations in multiple genes including CRTAP, BMP1, CREB3L1, IFITM5, FKBP10, LEPRE1, PPIB, SP7, PLOD2, TMEM38B, SERPINF, SERPINH1, SEC24D, SPARC, and WNT1.[1] These autosomal recessive mutations are responsible for causing defects in the proteins that interact with collagen. The autosomal recessive mutations cause the collagen proteins to be less effective and lead to symptoms involving Osteogenesis Imperfecta. Mutations in the SERPINH1 gene also lead to autosomal recessive versions of OI when seen in the homozygous state.[2]

  • This is another case report. These are NOT sufficient sources.

There is a direct correlation between the homozygous state of a gene and the autosomal recessive versions of the OI disorder. A study was done in ancestral family members who showed symptoms of OI which showed that those individuals who carried the homozygous allelic frequency, developed the disorder.[2] In addition, there have been reported cases of an X-linked version of OI. A pedigree from Thailand was analyzed in which 6 of the 12 male siblings were affected with OI.[3]

  • This is a third case report...

All of the males had been susceptible to bone fractures since gestation and exhibited a majority of the symptoms of OI. The mothers of all 6 of the males exhibited heterozygous allelic frequencies for a mutation in the genes responsible for causing OI. All of the males were diagnosed with either OI type III or IV which determined that the X-linked version of the disorder is increasingly more volatile than both the dominant and the recessive forms of the disease.[3]  An additional study that was done on individuals with X-linked OI exhibited that several individuals had a variant (rs140121121) in the PLS3 gene which led to their development of the OI disorder.[4]

  • This is a small case series.

The PLS3 gene is responsible for forming a bone-regulatory protein in humans. In the dominant form of the OI disorder, a WNT1 homozygous frameshift mutation as well as a single, recurrent nucleotide mutation in the IFITM5 gene are both located at the most 5’ end of their occurring DNA sequences. The 5’ mutations result in issues regarding bone growth and development. Individuals who carry 5’ mutations on the IFITM5 gene have reportedly been linked with carrying the dominant alleles for the gene.[5][1] The dominant form of the genes for the Osteogenesis Imperfecta disease cause severe cases of OI ranging from OI type III to OI type V.

  • And this is a case report.

Doc James (talk · contribs · email) 00:54, 2 November 2018 (UTC)[reply]

Here is a review article published in the Lancet in 2016 https://www.ncbi.nlm.nih.gov/pubmed/26542481
Here is another review https://www.ncbi.nlm.nih.gov/pubmed/28863000
These are the type of sources you should be using
Doc James (talk · contribs · email) 00:56, 2 November 2018 (UTC)[reply]
Thanks that is much better :-) Doc James (talk · contribs · email) 22:42, 4 November 2018 (UTC)[reply]
  1. ^ a b c d e Kuptanon C, Srichomthong C, Sansin A, Kovitvanitana D, Suphapeetiporn K, Shotelersuk V (16 July 2016). "The most 5' truncating homozygous mutation WNT1 in siblings with osteogenesis imperfecta with variable degree of brain anomalies: a case report". BMC Medical Genetics. 19 (1): 117. doi:10.1186/s12881-018-0639-0. PMC 6048891. PMID 30012084.{{cite journal}}: CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link)
  2. ^ a b Becker J, Seiler O, Gilissen C, Li Y, Bolz HJ (11 March 2011). "Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta". American Journal of Human Genetics. 88 (3): 362–371. doi:10.1016/j.ajhg.2011.01.015. PMC 3059418. PMID 21353196.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  3. ^ a b Lindert U, Cabral WA, Ausavarat S, Tongkobpetch S, Ludin K; et al. (6 July 2016). "MBTPS2 mutations cause defective regulated intrmembrane proteolysis in X-linked osteogenesis imperfecta". Nature Communications. 7: 11920 – via PubMed. {{cite journal}}: Explicit use of et al. in: |last= (help)CS1 maint: multiple names: authors list (link)
  4. ^ Dijik F, Zillikens C, Micha D, Riessland M, Marcelis C; et al. (17 October 2013). "PLS3 mutations in X-linked osteoporosis with fractures". New England Journal of Medicine. 369: 1529–1536. {{cite journal}}: Explicit use of et al. in: |last= (help)CS1 maint: multiple names: authors list (link)
  5. ^ Cho TJ, Lee KE, Lee SK, Song SJ, Kim KJ; et al. (10 August 2012). "A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V". American Journal of Human Genetics. 91(2): 343–348. {{cite journal}}: Explicit use of et al. in: |last= (help)CS1 maint: multiple names: authors list (link)
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