Changes in <em>FGFR2</em> amino-acid residue Asn549 lead to Crouzon and Pfeiffer syndrome with hydrocephalus

Caroline Apra; Corinne Collet; Eric Arnaud; Federico Di Rocco; Caroline Apra; Corinne Collet; Eric Arnaud; Federico Di Rocco

doi:10.3934/genet.2016.4.205

AIMS Genetics

2016, Volume 3, Issue 4: 205-211. doi: 10.3934/genet.2016.4.205

Previous Article Next Article

Case report Topical Sections

Changes in FGFR2 amino-acid residue Asn549 lead to Crouzon and Pfeiffer syndrome with hydrocephalus

1.
Department of Neurosurgery, Hôpital Necker-Enfants Malades, Paris, France–Centre de référence des dysostoses craniofaciales
2.
Sorbonne Universités, Université Pierre et Marie Curie, Paris, France
3.
Department of Biochemistry and Genetic Biology, Inserm 1132, Hôpital Lariboisière, Paris, France
4.
Department of Pediatric Neurosurgery, Hôpital Neurologique Pierre Wertheimer, Lyon, France

Received: 01 August 2016 Accepted: 27 September 2016 Published: 09 October 2016

Mutations in Fibroblast Growth Factor Receptor II (FGFR2) have been identified in patients with Crouzon and Pfeiffer syndrome, among which rare mutations of the intracellular tyrosine kinase domain. Correlating subtle phenotypes with each rare mutation is still in progress. In Necker-Enfants Malades Hospital, we identified three patients harboring three different pathogenic variants of the same amino acid residue Asn-549 located in this domain: in addition to a very typical crouzonoid appearance, they all developed clinically relevant hydrocephalus, which is an inconstant feature of Crouzon and Pfeiffer syndrome. Overall, FGFR2 tyrosine kinase domain mutations account for 5/67 (7.4%) cases in our hospital. We describe a novel mutation, p.Asn549Ser, and new cases of p.Asn549His and p.Asn549Thr mutations, each reported once before. Our three cases of Asn-549 mutations, alongside with rare previously reported cases, show that these patients are at higher risk of hydrocephalus. Clinical and imaging follow-up, with possible early surgery, may help prevent secondary intellectual disability.

Keywords:

Citation: Caroline Apra, Corinne Collet, Eric Arnaud, Federico Di Rocco. Changes in FGFR2 amino-acid residue Asn549 lead to Crouzon and Pfeiffer syndrome with hydrocephalus[J]. AIMS Genetics, 2016, 3(4): 205-211. doi: 10.3934/genet.2016.4.205

Related Papers:

[1]	Tasnim Fatima, Ekeoma Ijioma, Toshiyuki Ogawa, Adrian Muntean . Homogenization and dimension reduction of filtration combustion in heterogeneous thin layers. Networks and Heterogeneous Media, 2014, 9(4): 709-737. doi: 10.3934/nhm.2014.9.709
[2]	Markus Gahn, Maria Neuss-Radu, Peter Knabner . Effective interface conditions for processes through thin heterogeneous layers with nonlinear transmission at the microscopic bulk-layer interface. Networks and Heterogeneous Media, 2018, 13(4): 609-640. doi: 10.3934/nhm.2018028
[3]	Tom Freudenberg, Michael Eden . Homogenization and simulation of heat transfer through a thin grain layer. Networks and Heterogeneous Media, 2024, 19(2): 569-596. doi: 10.3934/nhm.2024025
[4]	François Murat, Ali Sili . A remark about the periodic homogenization of certain composite fibered media. Networks and Heterogeneous Media, 2020, 15(1): 125-142. doi: 10.3934/nhm.2020006
[5]	Vivek Tewary . Combined effects of homogenization and singular perturbations: A bloch wave approach. Networks and Heterogeneous Media, 2021, 16(3): 427-458. doi: 10.3934/nhm.2021012
[6]	María Anguiano, Renata Bunoiu . Homogenization of Bingham flow in thin porous media. Networks and Heterogeneous Media, 2020, 15(1): 87-110. doi: 10.3934/nhm.2020004
[7]	Iryna Pankratova, Andrey Piatnitski . Homogenization of convection-diffusion equation in infinite cylinder. Networks and Heterogeneous Media, 2011, 6(1): 111-126. doi: 10.3934/nhm.2011.6.111
[8]	Grigory Panasenko, Ruxandra Stavre . Asymptotic analysis of a non-periodic flow in a thin channel with visco-elastic wall. Networks and Heterogeneous Media, 2008, 3(3): 651-673. doi: 10.3934/nhm.2008.3.651
[9]	Mohamed Belhadj, Eric Cancès, Jean-Frédéric Gerbeau, Andro Mikelić . Homogenization approach to filtration through a fibrous medium. Networks and Heterogeneous Media, 2007, 2(3): 529-550. doi: 10.3934/nhm.2007.2.529
[10]	Mustapha El Jarroudi, Youness Filali, Aadil Lahrouz, Mustapha Er-Riani, Adel Settati . Asymptotic analysis of an elastic material reinforced with thin fractal strips. Networks and Heterogeneous Media, 2022, 17(1): 47-72. doi: 10.3934/nhm.2021023

Abstract

References

[1]	Agochukwu NB, Solomon BD, Muenke M (2012) Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses. Childs Nerv Syst 28: 1447-1463. doi: 10.1007/s00381-012-1756-2
[2]	Rocco FD, Arnaud E, Renier D (2009) Evolution in the frequency of nonsyndromic craniosynostosis. J Neurosurg Pediat 4: 21-25. doi: 10.3171/2009.3.PEDS08355
[3]	Crouzon O (1912) Dysostose cranio-faciale hereditaire. Bull Mem Soc Med Hop Paris 33: 545-555.
[4]	Reardon W, Winter RM, Rutland P, et al. (1994) Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nature Genetics 8: 98-103. doi: 10.1038/ng0994-98
[5]	Collet C, Alessandri JL, Arnaud E, et al. (2014) Crouzon syndrome and Bent bone dysplasia associated with mutations at the same Tyr-381 residue in FGFR2 gene. Clin Genet 85: 598-599.
[6]	Lajeunie E, Heuertz S, Ghouzzi VE, et al. (2006) Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome. Eur J Hum Genet 14: 289-298. doi: 10.1038/sj.ejhg.5201558
[7]	Lajeunie E, Ma HW, Bonaventure J, et al. (1995) FGFR2 mutations in Pfeiffer syndrome. Nat Genet 9: 108.
[8]	Tartaglia M, Di Rocco C, Lajeunie E, et al. (1997) Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders. Hum Genet 101: 47-50. doi: 10.1007/s004390050584
[9]	Kan S, Elanko N, Johnson D, et al. (2002) Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet 70: 472-486.
[10]	Meyers GA, Day D, Goldberg R, et al. (1996) FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. Am J Hum Genet 58: 491-498.
[11]	Chen H, Ma J, Li W, et al. (2007) A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases. Mol Cell 27: 717-730. doi: 10.1016/j.molcel.2007.06.028
[12]	Wilkie AOM, Bochukova EG, Hansen RMS, et al. (2007) Clinical dividends from the molecular genetic diagnosis of craniosynostosis. Am J Med Genet 143: 1941-1949.
[13]	de Ravel TJL, Taylor IB, Van Oostveldt AJT, et al. (2005) A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome. Eur J Hum Genet 13: 503-505. doi: 10.1038/sj.ejhg.5201325
[14]	Zankl A, Jaeger G, Bonafé L, et al. (2004) Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome. Am J Med Genet A 131: 299-300.
[15]	Roscioli T, Elakis G, Cox TC, et al. (2013) Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. Am J Med Genet C Semin Med Genet 163C: 259-270.
[16]	Collmann H, Sörensen N, Krauss J (2005) Hydrocephalus in craniosynostosis: a review. Childs Nerv Syst 21: 902-912. doi: 10.1007/s00381-004-1116-y
[17]	Raybaud C, Di Rocco C (2007) Brain malformation in syndromic craniosynostoses, a primary disorder of white matter: a review. Childs Nerv Syst 23: 1379-1388. doi: 10.1007/s00381-007-0474-7
[18]	McGillivray G, Savarirayan R, Cox T, et al. (2005) Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. J Med Genet 42: 656-662. doi: 10.1136/jmg.2004.027888

This article has been cited by:

1.	Renata Bunoiu, Claudia Timofte, Upscaling of a double porosity problem with jumps in thin porous media, 2022, 101, 0003-6811, 3497, 10.1080/00036811.2020.1854232
2.	M. Amar, D. Andreucci, R. Gianni, C. Timofte, Concentration and homogenization in electrical conduction in heterogeneous media involving the Laplace–Beltrami operator, 2020, 59, 0944-2669, 10.1007/s00526-020-01749-x
3.	Ekeoma Rowland Ijioma, Hirofumi Izuhara, Masayasu Mimura, Traveling Waves in a Reaction-Diffusion System Describing Smoldering Combustion, 2017, 77, 0036-1399, 614, 10.1137/16M1089915
4.	Ekeoma R. Ijioma, Hirofumi Izuhara, Masayasu Mimura, Toshiyuki Ogawa, Homogenization and fingering instability of a microgravity smoldering combustion problem with radiative heat transfer, 2015, 162, 00102180, 4046, 10.1016/j.combustflame.2015.07.044
5.	M. Amar, D. Andreucci, C. Timofte, Asymptotic analysis for non-local problems in composites with different imperfect contact conditions, 2022, 0003-6811, 1, 10.1080/00036811.2022.2120867
6.	A. Chakib, A. Hadri, A. Nachaoui, M. Nachaoui, Homogenization of parabolic problem with nonlinear transmission condition, 2017, 37, 14681218, 433, 10.1016/j.nonrwa.2017.03.004
7.	Iuliu Sorin Pop, Jeroen Bogers, Kundan Kumar, Analysis and Upscaling of a Reactive Transport Model in Fractured Porous Media with Nonlinear Transmission Condition, 2017, 45, 2305-221X, 77, 10.1007/s10013-016-0198-7
8.	Emilio N. M. Cirillo, Ida de Bonis, Adrian Muntean, Omar Richardson, Upscaling the interplay between diffusion and polynomial drifts through a composite thin strip with periodic microstructure, 2020, 55, 0025-6455, 2159, 10.1007/s11012-020-01253-8
9.	Vishnu Raveendran, Emilio Cirillo, Ida de Bonis, Adrian Muntean, Scaling effects on the periodic homogenization of a reaction-diffusion-convection problem posed in homogeneous domains connected by a thin composite layer, 2021, 80, 0033-569X, 157, 10.1090/qam/1607
10.	Renata Bunoiu, Karim Karim, Claudia Timofte, T-coercivity for the asymptotic analysis of scalar problems with sign-changing coefficients in thin periodic domains, 2021, 2021, 1072-6691, 59, 10.58997/ejde.2021.59
11.	Renata Bunoiu, Claudia Timofte, Upscaling of a diffusion problem with flux jump in high contrast composites, 2024, 103, 0003-6811, 2269, 10.1080/00036811.2023.2291810
12.	Matteo Colangeli, Manh Hong Duong, Adrian Muntean, Model reduction of Brownian oscillators: quantification of errors and long-time behavior, 2023, 56, 1751-8113, 345003, 10.1088/1751-8121/ace948

Reader Comments

Your name:*

Email:*
© 2016 the Author(s), licensee AIMS Press. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0)