Case Report
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Mavi sklera varlığıyla birlikte farklı fenotipik özelliklere sahip osteogenez imperfekta tip 5 olgusu

Year 2021, Volume: 14 Issue: 2, 354 - 359, 25.08.2021
https://doi.org/10.26559/mersinsbd.808861

Abstract

Osteogenez İmperfekta, birçok fenotipe sahip, nadir görülen kalıtsal bir kemik metabolizması hastalığıdır. Tip I kollajen yapımından sorumlu genlerdeki mutasyonlar sonucunda oluşur. Hem otozomal dominant hem de otozomal resesif geçişli bu hastalıkta, vakaların %80'inden fazlası en yaygın COL1A1 ve COL1A2 genlerindeki mutasyonlarla ilişkilidir. IFITM5 genindeki mutasyonlar ise vakaların %5-10'undan sorumludur. IFITM5 geninde görülen en yaygın mutasyon “c. - 14C> T”, otozomal dominant Osteogenez İmperfekta Tip V'den sorumludur. Osteogenez İmperfekta Tip V’in klinik varyasyonu çoktur. Bazı durumlarda fenotipik özelliklerin zayıf olması tanıyı daha da zorlaştırır. Bu olgu sunumu hem hastanemizde ilk tanı konulan Osteogenez İmperfekta Tip V olgusu olması hem de klinik özelliklerinin farklı olması nedeniyle sunulmuştur.

References

  • 1. Huber MA. Osteogenesis imperfecta. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007;103(3):314–320. doi:10.1016/j.tripleo.2006.10.003.
  • 2. Byers PH, Starman BJ, Cohn DH, Horwitz AL. A novel mutation causes a perinatal lethal form of ostegenesis imperfecta. An insertion in one α1(I) collagen allele (COL1A1). J Biol Chem. 1988;263(16):7855–7861.
  • 3. Cho TJ, Lee KE, Lee SK, et al. A single recurrent mutation in the 5′-UTR of IFITM5 causes osteogenesis imperfecta type v. Am J Hum Genet. 2012;91(2):343–348. doi:10.1016/j.ajhg.2012.06.005.
  • 4. Akşi̇t M, Kuşku M, Kuşku E. Osteogenezis İmperfekta’nın kesin tanısını koymak kolay/zordur. Türk Dünyası Uygulama ve Araştırma Merkezi Yenidoğan Dergisi. 2019;1(1):83-90.
  • 5. Christiansen HE, Schwarze U, Pyott SM, 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;86(3):389–398. doi:10.1016/j.ajhg.2010.01.034.
  • 6. Morello R, Bertin TK, Chen Y, et al. CRTAP Is Required for Prolyl 3- Hydroxylation and Mutations Cause Recessive Osteogenesis Imperfecta. Cell. 2006;127(2):291–304. doi:10.1016/j.cell.2006.08.039.
  • 7. Essawi O, Symoens S, Fannana M, et al. Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families. Mol Genet Genomic Med. 2018;6:15–26. doi:10.1002/mgg3.331.
  • 8. Alanay Y, Avaygan H, Camacho N, et al. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta [published correction appears in Am J Hum Genet. 2010 Oct 8;87(4):572-3]. Am J Hum Genet. 2010;86(4):551-559. doi:10.1016/j.ajhg.2010.02.022.
  • 9. Bardai G, Moffatt P, Glorieux FH, Rauch F. DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum. Osteoporos Int. 2016;27(12):3607-13. doi:10.1007/s00198-016-3709-1.
  • 10. Zhytnik L, Maasalu K, Duy BH, et al. IFITM5 pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients. Hum Genomics. 2019;13(1):25. doi:10.1186/s40246-019-0209-3.
  • 11. Guillén-Navarro E, Ballesta-Martínez MJ, Valencia M, et al. Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta. Am J Med Genet A. 2014;164A(5):1136-1142. doi:10.1002/ajmg.a.36409.
  • 12. Dagdeviren D, Tamimi F, Lee B, Sutton R, Rauch F, Retrouvey JM. Dental and craniofacial characteristics caused by the p.Ser40Leu mutation in IFITM5. Am J Med Genet A. 2019;179(1):65–70. doi:10.1002/ajmg.a.40383.
  • 13. Glorieux FH, Rauch F, Plotkin H, et al. Type V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res. 2000;15(9):1650-1658. doi:10.1359/jbmr.2000.15.9.1650.
  • 14. Grover M, Campeau PM, Lietman CD, et al. Osteogenesis imperfecta without features of type v caused by a mutation in the IFITM5 gene. J Bone Miner Res. 2013;28(11):2333-2337. doi:10.1002/jbmr.1983.
  • 15. Cao YJ, Wei Z, Zhang H, Zhang ZL. Expanding the Clinical Spectrum of Osteogenesis Imperfecta Type V: 13 Additional Patients and Review. Front Endocrinol (Lausanne). 2019;10:375. Published 2019 Jun 12. doi:10.3389/fendo.2019.00375.
  • 16. Shapiro JR, Lietman C, Grover M, et al. Phenotypic variability of osteogenesis imperfecta type v caused by an IFITM5 mutation. J Bone Miner Res. 2013;28(7):1523-1530. doi:10.1002/jbmr.1891.

A case of osteogenesıs ımperfecta type 5 wıth dıfferent phenotypıc features wıth the presence of blue sclera

Year 2021, Volume: 14 Issue: 2, 354 - 359, 25.08.2021
https://doi.org/10.26559/mersinsbd.808861

Abstract

Osteogenesis Imperfecta (OI) is a rare hereditary disease of bone metabolism which has many phenotypes. It occurs as a result of mutations in genes responsible for making Type I collagen. In this disease with both autosomal dominant and recessive inheritance, more than 80% of cases are associated with mutations in COL1A1-A2 genes. In the rest, mutations in the IFITM5 gene are responsible for 5-10% of the cases. The most common mutation seen in IFITM5 gene “c. - 14C> T ” is responsible for autosomal dominant OI Type V. There are many clinical variations of OI type V. The fact that the poor phenotypic features in some cases make the diagnosis more difficult. This case report was presented because of both being the first OI Type V case diagnosed in our hospital and differences of its clinical features.

References

  • 1. Huber MA. Osteogenesis imperfecta. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007;103(3):314–320. doi:10.1016/j.tripleo.2006.10.003.
  • 2. Byers PH, Starman BJ, Cohn DH, Horwitz AL. A novel mutation causes a perinatal lethal form of ostegenesis imperfecta. An insertion in one α1(I) collagen allele (COL1A1). J Biol Chem. 1988;263(16):7855–7861.
  • 3. Cho TJ, Lee KE, Lee SK, et al. A single recurrent mutation in the 5′-UTR of IFITM5 causes osteogenesis imperfecta type v. Am J Hum Genet. 2012;91(2):343–348. doi:10.1016/j.ajhg.2012.06.005.
  • 4. Akşi̇t M, Kuşku M, Kuşku E. Osteogenezis İmperfekta’nın kesin tanısını koymak kolay/zordur. Türk Dünyası Uygulama ve Araştırma Merkezi Yenidoğan Dergisi. 2019;1(1):83-90.
  • 5. Christiansen HE, Schwarze U, Pyott SM, 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;86(3):389–398. doi:10.1016/j.ajhg.2010.01.034.
  • 6. Morello R, Bertin TK, Chen Y, et al. CRTAP Is Required for Prolyl 3- Hydroxylation and Mutations Cause Recessive Osteogenesis Imperfecta. Cell. 2006;127(2):291–304. doi:10.1016/j.cell.2006.08.039.
  • 7. Essawi O, Symoens S, Fannana M, et al. Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families. Mol Genet Genomic Med. 2018;6:15–26. doi:10.1002/mgg3.331.
  • 8. Alanay Y, Avaygan H, Camacho N, et al. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta [published correction appears in Am J Hum Genet. 2010 Oct 8;87(4):572-3]. Am J Hum Genet. 2010;86(4):551-559. doi:10.1016/j.ajhg.2010.02.022.
  • 9. Bardai G, Moffatt P, Glorieux FH, Rauch F. DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum. Osteoporos Int. 2016;27(12):3607-13. doi:10.1007/s00198-016-3709-1.
  • 10. Zhytnik L, Maasalu K, Duy BH, et al. IFITM5 pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients. Hum Genomics. 2019;13(1):25. doi:10.1186/s40246-019-0209-3.
  • 11. Guillén-Navarro E, Ballesta-Martínez MJ, Valencia M, et al. Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta. Am J Med Genet A. 2014;164A(5):1136-1142. doi:10.1002/ajmg.a.36409.
  • 12. Dagdeviren D, Tamimi F, Lee B, Sutton R, Rauch F, Retrouvey JM. Dental and craniofacial characteristics caused by the p.Ser40Leu mutation in IFITM5. Am J Med Genet A. 2019;179(1):65–70. doi:10.1002/ajmg.a.40383.
  • 13. Glorieux FH, Rauch F, Plotkin H, et al. Type V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res. 2000;15(9):1650-1658. doi:10.1359/jbmr.2000.15.9.1650.
  • 14. Grover M, Campeau PM, Lietman CD, et al. Osteogenesis imperfecta without features of type v caused by a mutation in the IFITM5 gene. J Bone Miner Res. 2013;28(11):2333-2337. doi:10.1002/jbmr.1983.
  • 15. Cao YJ, Wei Z, Zhang H, Zhang ZL. Expanding the Clinical Spectrum of Osteogenesis Imperfecta Type V: 13 Additional Patients and Review. Front Endocrinol (Lausanne). 2019;10:375. Published 2019 Jun 12. doi:10.3389/fendo.2019.00375.
  • 16. Shapiro JR, Lietman C, Grover M, et al. Phenotypic variability of osteogenesis imperfecta type v caused by an IFITM5 mutation. J Bone Miner Res. 2013;28(7):1523-1530. doi:10.1002/jbmr.1891.
There are 16 citations in total.

Details

Primary Language Turkish
Subjects Health Care Administration
Journal Section Articles
Authors

Didem Güneş Korkut 0000-0002-4388-573X

Deniz Kor 0000-0001-7659-0500

Fatma Derya Bulut 0000-0003-0529-2404

Sebile Kılavuz 0000-0002-7527-2620

Serdar Ceylaner 0000-0003-2786-1911

Tuğsan Ballı 0000-0002-5324-0097

H. Neslihan Önenli Mungan 0000-0001-7862-3038

Publication Date August 25, 2021
Submission Date October 25, 2020
Acceptance Date February 10, 2021
Published in Issue Year 2021 Volume: 14 Issue: 2

Cite

APA Güneş Korkut, D., Kor, D., Bulut, F. D., Kılavuz, S., et al. (2021). Mavi sklera varlığıyla birlikte farklı fenotipik özelliklere sahip osteogenez imperfekta tip 5 olgusu. Mersin Üniversitesi Sağlık Bilimleri Dergisi, 14(2), 354-359. https://doi.org/10.26559/mersinsbd.808861
AMA Güneş Korkut D, Kor D, Bulut FD, Kılavuz S, Ceylaner S, Ballı T, Önenli Mungan HN. Mavi sklera varlığıyla birlikte farklı fenotipik özelliklere sahip osteogenez imperfekta tip 5 olgusu. Mersin Univ Saglık Bilim derg. August 2021;14(2):354-359. doi:10.26559/mersinsbd.808861
Chicago Güneş Korkut, Didem, Deniz Kor, Fatma Derya Bulut, Sebile Kılavuz, Serdar Ceylaner, Tuğsan Ballı, and H. Neslihan Önenli Mungan. “Mavi Sklera varlığıyla Birlikte Farklı Fenotipik özelliklere Sahip Osteogenez Imperfekta Tip 5 Olgusu”. Mersin Üniversitesi Sağlık Bilimleri Dergisi 14, no. 2 (August 2021): 354-59. https://doi.org/10.26559/mersinsbd.808861.
EndNote Güneş Korkut D, Kor D, Bulut FD, Kılavuz S, Ceylaner S, Ballı T, Önenli Mungan HN (August 1, 2021) Mavi sklera varlığıyla birlikte farklı fenotipik özelliklere sahip osteogenez imperfekta tip 5 olgusu. Mersin Üniversitesi Sağlık Bilimleri Dergisi 14 2 354–359.
IEEE D. Güneş Korkut, “Mavi sklera varlığıyla birlikte farklı fenotipik özelliklere sahip osteogenez imperfekta tip 5 olgusu”, Mersin Univ Saglık Bilim derg, vol. 14, no. 2, pp. 354–359, 2021, doi: 10.26559/mersinsbd.808861.
ISNAD Güneş Korkut, Didem et al. “Mavi Sklera varlığıyla Birlikte Farklı Fenotipik özelliklere Sahip Osteogenez Imperfekta Tip 5 Olgusu”. Mersin Üniversitesi Sağlık Bilimleri Dergisi 14/2 (August 2021), 354-359. https://doi.org/10.26559/mersinsbd.808861.
JAMA Güneş Korkut D, Kor D, Bulut FD, Kılavuz S, Ceylaner S, Ballı T, Önenli Mungan HN. Mavi sklera varlığıyla birlikte farklı fenotipik özelliklere sahip osteogenez imperfekta tip 5 olgusu. Mersin Univ Saglık Bilim derg. 2021;14:354–359.
MLA Güneş Korkut, Didem et al. “Mavi Sklera varlığıyla Birlikte Farklı Fenotipik özelliklere Sahip Osteogenez Imperfekta Tip 5 Olgusu”. Mersin Üniversitesi Sağlık Bilimleri Dergisi, vol. 14, no. 2, 2021, pp. 354-9, doi:10.26559/mersinsbd.808861.
Vancouver Güneş Korkut D, Kor D, Bulut FD, Kılavuz S, Ceylaner S, Ballı T, Önenli Mungan HN. Mavi sklera varlığıyla birlikte farklı fenotipik özelliklere sahip osteogenez imperfekta tip 5 olgusu. Mersin Univ Saglık Bilim derg. 2021;14(2):354-9.

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