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Thanatophoric Dysplasia Detected During Prenatal Period

Yıl 2017, Cilt: 31 Sayı: 3, 181 - 186, 17.12.2017

Hande Özkalaycı Esra Ataman , Murat Celiloğlu Erdener Özer , Ayfer Ülgenalp , Derya Erçal Elçin Bora

Öz

Thanatophoric dysplasia is one of the
newborn’s dwarfism syndromes usually resulting in death during perinatal period
and manifesting as short extremities. It is characterized by macrocephaly,
prominent forehead, narrow thorax, short extremities, flattened vertebral
bodies, curved femurs. This is caused by mutations in the fibroblast growth
factor receptor 3 (FGFR3) gene and
shows autosomal dominant inheritance model. In this report, we presented a case
with abnormal USG findings during perinatal period and detected to carry a
p.R248C mutation in FGFR3 gene in
amniosynthesis fluid.


Anahtar Kelimeler

Thanatophoric Dysplasia; Fibroblast Growth Factor; FGFR3 Gene; Prenatal Diagnosis

Kaynakça

  • Referans1 Maroteaux P, Lamy M, Robert J-M. Le nanisme thanatophore. Presse Med 1967;49: 2519–24.
  • Referans2 Dighe M, Fligner C, Cheng E, Warren B, Dubinsky T. Fetal skeletal dysplasia: an approach to diagnosis with illustrative cases. Radiographics 2008;28:1061.
  • Referans3 Orioli IM, Castilla EE, Barbosa-Neto JG. The birth prevalence rates for the skeletal dysplasias. J Med Genet 1986;23:328–32.
  • Referans4 Martínez-Frías ML, Ramos-Arroyo MA, Salvador J. Thanatophoric dysplasia: an autosomal dominant condition?. Am J Med Genet 1988;31:815-20.
  • Referans5 Wilcox WR, Tavormina PL, Krakow D, et al. Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia. Am J Med Genet 1998;78:274-81.
  • Referans6 Hatzaki A, Sifakis S, Apostolopoulou D, et al. FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: Presentation of 17 cases. Am J Med Genet Part A 2011;155:2426–35.
  • Referans7 Baker KM, Olson DS, Harding CO, Pauli RM. Long term survival in typical thanatophoric dysplasia type 1. Am J Med Genet 1997;70:427-36.
  • Referans8 Langer LO, Yang SS, Hall JG, et al. Thanatophoric dysplasia and cloverleaf skull. Am J Med Genet 1987;3:167–79.
  • Referans9 Bonafe L, Cormier-Daire V, Hall C, et al. Nosology and classification of genetic skeletal disorders. Am J Med Genet Part A 2015;9999A:1–24.
  • Referans10 Martínez-Frías ML, de Frutos CA, Bermejo E, ECEMC Working Group, Nieto MA. Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. Am J Med Genet A 2010;152A: 245-55.
  • Referans11. Foldynova-Trantirkova S, Wilcox WR, Krejci P. Sixteen years and counting: The current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias. Hum Mutat 2012;33:29–41.
  • Referans12. Johnson DE, Williams LT. Structural and functional diversity in the FGF receptor multigene family. Adv Cancer Res 1993;60:1-41.
  • Referans13 Webster MK, D'Avis PY, Robertson SC, Donoghue DJ. Profound Ligand-Independent Kinase Activation of Fibroblast Growth Factor Receptor 3 by the Activation Loop Mutation Responsible for a Lethal Skeletal Dysplasia, Thanatophoric Dysplasia Type II. Mol Cell Biol 1996;16:4081-7.
  • Referans14 Vajo Z, Francomano CA, Wilkin DJ. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke Craniosynostosis, and Crouzon Syndrome with Acanthosis Nigricans. Endocrine Reviews 2000;21:23–39.
  • Referans15 Krakow D, Alanay Y,Rimoin LP, et al. Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis. Am J Med Genet A 2008;146A:1917–24.
  • Referans16 Nyberg A, Mahony BS, Pretorius DH. Diagnostic ultrasound of fetal anomalies. In: Mahony BS, editor: The extremities. St. Louis: Mosby-Year Book; 1990.p.493-559.
  • Referans17 L.S.Chitty, A.Khalil, A.N.Barrett, E.Pajkrt, D.R.Griffin, T. J. Cole. Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA. Prenat Diagn 2013;33;416–423.
  • Referans18 Passos-Bueno MR, Wilcox WR, Jabs EW, Sertie AL, Alonso LG, Kitoh H. Clinical spectrum of fibroblast growth factor receptor mutations. Hum Mutat 1999;14:115–125.
  • Referans19 Rousseau F, Saugier P, La Merrer M, et al. Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. Nat Genet 1995;10:11–12.
  • Referans20 Tavormina PL, Shiang A, Thompson LM, et al. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet 1995a;9:321–328.
  • Referans21 Tavormina PL, Rimoin DL, Cohn DH, Zhu Y-Z, Shiang A, Wasmuth JJ. Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I. Hum Mol Genet 1995b;4:2175–2177. Referans22 Lindy AS, Basehore MJ, Munisha M, et al. Identification of a novel insertion mutation in FGFR3 that causes Thanatophoric Dysplasia type 1. Am J Med Genet Part A 2016;170A:1573–1579.
  • Referans23 d’Avis PY, Robertson SC, Meyer AN, Bardwell WM, Webster MK, Donoghue DJ. Constitutive activation of fibroblast growth factor receptor 3 by mutations responsible for the lethal skeletal dysplasia thanatophoric dysplasia type I. Cell Growth Differ 1998;9:71–78.
  • Referans24 Rousseau F, el Ghouzzi V, Delezoide AL, et al. Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1). Hum Mol Genet 1996;5:509–512.
  • Referans25 Adar R, Monsonego-Ornan E, David P, Yayon A. Differential activation of cysteine substitution mutants of fibroblast growthfactor receptor3 is determined by cysteine localization. J Bone Miner Res 2002;17:860–868.
  • Referans26 Degnin CR, Laederich MB, Hortona WA. Ligand activation leads to regulated intramembrane proteolysis of fibroblast growth factor receptor 3. Mol Biol Cell 2011;22:3861–3873.
  • Referans27 Heuertz S, Le Merrer M, Zabel B, et al. Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. Eur J Hum Genet 2006;14:1240–1247.
  • Referans28 http://www.orpha.net/ (Erişim tarihi: 26 Ocak 2017).

Prenatal dönemde saptanan Tanatoforik Displazi olgusu

Yıl 2017, Cilt: 31 Sayı: 3, 181 - 186, 17.12.2017

Hande Özkalaycı Esra Ataman , Murat Celiloğlu Erdener Özer , Ayfer Ülgenalp , Derya Erçal Elçin Bora

Öz

Tanatoforik displazi, genelde perinatal
dönemde ölümle sonuçlanan ve kısa ekstremiteler ile kendini gösteren
yenidoğanın cücelik sendromlarından biridir. Makrosefali, belirgin alın, dar
toraks, vertebralarda düzleşme, ekstremitelerde kısalık, femurda eğrilme ile
karakterizedir. Fibroblast büyüme faktörü reseptörü 3 (FGFR3) genindeki mutasyonlardan kaynaklanır ve otozomal dominant
kalıtım modeli gösterir. Bu makalede, prenatal dönemde anormal USG bulguları
olan, amniyosentez materyalinden yapılan FGFR3
gen analizi ile p.R248C mutasyonu saptanan bir olgu anlatılmıştır.




Anahtar Kelimeler

Tanatoforik Displazi Fibroblast Büyüme Faktörü FGFR3 Geni Prenatal Tanı

Kaynakça

  • Referans1 Maroteaux P, Lamy M, Robert J-M. Le nanisme thanatophore. Presse Med 1967;49: 2519–24.
  • Referans2 Dighe M, Fligner C, Cheng E, Warren B, Dubinsky T. Fetal skeletal dysplasia: an approach to diagnosis with illustrative cases. Radiographics 2008;28:1061.
  • Referans3 Orioli IM, Castilla EE, Barbosa-Neto JG. The birth prevalence rates for the skeletal dysplasias. J Med Genet 1986;23:328–32.
  • Referans4 Martínez-Frías ML, Ramos-Arroyo MA, Salvador J. Thanatophoric dysplasia: an autosomal dominant condition?. Am J Med Genet 1988;31:815-20.
  • Referans5 Wilcox WR, Tavormina PL, Krakow D, et al. Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia. Am J Med Genet 1998;78:274-81.
  • Referans6 Hatzaki A, Sifakis S, Apostolopoulou D, et al. FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: Presentation of 17 cases. Am J Med Genet Part A 2011;155:2426–35.
  • Referans7 Baker KM, Olson DS, Harding CO, Pauli RM. Long term survival in typical thanatophoric dysplasia type 1. Am J Med Genet 1997;70:427-36.
  • Referans8 Langer LO, Yang SS, Hall JG, et al. Thanatophoric dysplasia and cloverleaf skull. Am J Med Genet 1987;3:167–79.
  • Referans9 Bonafe L, Cormier-Daire V, Hall C, et al. Nosology and classification of genetic skeletal disorders. Am J Med Genet Part A 2015;9999A:1–24.
  • Referans10 Martínez-Frías ML, de Frutos CA, Bermejo E, ECEMC Working Group, Nieto MA. Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. Am J Med Genet A 2010;152A: 245-55.
  • Referans11. Foldynova-Trantirkova S, Wilcox WR, Krejci P. Sixteen years and counting: The current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias. Hum Mutat 2012;33:29–41.
  • Referans12. Johnson DE, Williams LT. Structural and functional diversity in the FGF receptor multigene family. Adv Cancer Res 1993;60:1-41.
  • Referans13 Webster MK, D'Avis PY, Robertson SC, Donoghue DJ. Profound Ligand-Independent Kinase Activation of Fibroblast Growth Factor Receptor 3 by the Activation Loop Mutation Responsible for a Lethal Skeletal Dysplasia, Thanatophoric Dysplasia Type II. Mol Cell Biol 1996;16:4081-7.
  • Referans14 Vajo Z, Francomano CA, Wilkin DJ. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke Craniosynostosis, and Crouzon Syndrome with Acanthosis Nigricans. Endocrine Reviews 2000;21:23–39.
  • Referans15 Krakow D, Alanay Y,Rimoin LP, et al. Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis. Am J Med Genet A 2008;146A:1917–24.
  • Referans16 Nyberg A, Mahony BS, Pretorius DH. Diagnostic ultrasound of fetal anomalies. In: Mahony BS, editor: The extremities. St. Louis: Mosby-Year Book; 1990.p.493-559.
  • Referans17 L.S.Chitty, A.Khalil, A.N.Barrett, E.Pajkrt, D.R.Griffin, T. J. Cole. Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA. Prenat Diagn 2013;33;416–423.
  • Referans18 Passos-Bueno MR, Wilcox WR, Jabs EW, Sertie AL, Alonso LG, Kitoh H. Clinical spectrum of fibroblast growth factor receptor mutations. Hum Mutat 1999;14:115–125.
  • Referans19 Rousseau F, Saugier P, La Merrer M, et al. Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. Nat Genet 1995;10:11–12.
  • Referans20 Tavormina PL, Shiang A, Thompson LM, et al. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet 1995a;9:321–328.
  • Referans21 Tavormina PL, Rimoin DL, Cohn DH, Zhu Y-Z, Shiang A, Wasmuth JJ. Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I. Hum Mol Genet 1995b;4:2175–2177. Referans22 Lindy AS, Basehore MJ, Munisha M, et al. Identification of a novel insertion mutation in FGFR3 that causes Thanatophoric Dysplasia type 1. Am J Med Genet Part A 2016;170A:1573–1579.
  • Referans23 d’Avis PY, Robertson SC, Meyer AN, Bardwell WM, Webster MK, Donoghue DJ. Constitutive activation of fibroblast growth factor receptor 3 by mutations responsible for the lethal skeletal dysplasia thanatophoric dysplasia type I. Cell Growth Differ 1998;9:71–78.
  • Referans24 Rousseau F, el Ghouzzi V, Delezoide AL, et al. Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1). Hum Mol Genet 1996;5:509–512.
  • Referans25 Adar R, Monsonego-Ornan E, David P, Yayon A. Differential activation of cysteine substitution mutants of fibroblast growthfactor receptor3 is determined by cysteine localization. J Bone Miner Res 2002;17:860–868.
  • Referans26 Degnin CR, Laederich MB, Hortona WA. Ligand activation leads to regulated intramembrane proteolysis of fibroblast growth factor receptor 3. Mol Biol Cell 2011;22:3861–3873.
  • Referans27 Heuertz S, Le Merrer M, Zabel B, et al. Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. Eur J Hum Genet 2006;14:1240–1247.
  • Referans28 http://www.orpha.net/ (Erişim tarihi: 26 Ocak 2017).
Toplam 27 adet kaynakça vardır.

Ayrıntılar

Bölüm Makaleler
Yazarlar

Hande Özkalaycı Bu kişi benim

Esra Ataman

Murat Celiloğlu Bu kişi benim

Erdener Özer

Ayfer Ülgenalp

Derya Erçal Bu kişi benim

Elçin Bora Bu kişi benim

Yayımlanma Tarihi 17 Aralık 2017
Gönderilme Tarihi 27 Ocak 2017
Yayımlandığı Sayı Yıl 2017 Cilt: 31 Sayı: 3

Kaynak Göster

Vancouver Özkalaycı H, Ataman E, Celiloğlu M, Özer E, Ülgenalp A, Erçal D, Bora E. Prenatal dönemde saptanan Tanatoforik Displazi olgusu. DEU Tıp Derg. 2017;31(3):181-6.
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