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CC BY 4.0 · Glob Med Genet 2021; 08(03): 100-103
DOI: 10.1055/s-0041-1725070
Original Article

Psychomotor Delay in a Child with FGFR3 G380R Pathogenic Mutation Causing Achondroplasia

Mahmut C. Ergoren
1   Department of Medical Genetics, Faculty of Medicine, Near East University, Nicosia, Cyprus
,
Erdal Eren
2   Department of Pediatric Endocrinology, Faculty of Medicine, Bursa Uludağ University, Bursa, Turkey
,
Elena Manara
3   MAGI’s LAB S.r.l., Rovereto, Italy
,
Stefano Paolacci
3   MAGI’s LAB S.r.l., Rovereto, Italy
,
Pinar Tulay
1   Department of Medical Genetics, Faculty of Medicine, Near East University, Nicosia, Cyprus
,
Sebnem O. Sag
4   Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey
,
Matteo Bertelli
3   MAGI’s LAB S.r.l., Rovereto, Italy
,
Gamze Mocan
1   Department of Medical Genetics, Faculty of Medicine, Near East University, Nicosia, Cyprus
,
Sehime Gulsun Temel
4   Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey
5   Department of Histology and Embryology, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey
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Abstract

Achondroplasia (ACH) is a hereditary disorder of dwarfism that is caused by the aberrant proliferation and differentiation of chondrocyte growth plates. The common findings of macrocephaly and facial anomalies accompany dwarfism in these patients. Fibroblast growth factor receptor 3 (FGFR3) gene mutations are common causes of achondroplasia. The current study presents a case of 2-year-old male child patient presenting with phenotypic characteristics of ACH. The interesting finding of the case is the presence of psychomotor delay that is not very common in these patients. Clinical exome sequencing analyzing 4.813 disease causing genes revealed a de novo c.1138G > A mutation within the FGFR3 gene. In conclusion, the mutation confirms the clinical diagnosis of ACH, and it seems to be causing the psychomotor delay in this patient.

Keywords

achondroplasia - FGFR3 mutations - psychomotor delay


Publication History

Article published online:
21 May 2021

© 2021. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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  • References

  • 1 Horton WA, Hall JG, Hecht JT. Achondroplasia. Lancet 2007; 370 (9582): 162-172
    CrossrefPubMedGoogle Scholar
  • 2 Placone J, Hristova K. Direct assessment of the effect of the Gly380Arg achondroplasia mutation on FGFR3 dimerization using quantitative imaging FRET. PLoS One 2012; 7 (10) e46678
    CrossrefPubMedGoogle Scholar
  • 3 Orioli IM, Castilla EE, Barbosa-Neto JG. The birth prevalence rates for the skeletal dysplasias. J Med Genet 1986; 23 (04) 328-332
    CrossrefPubMedGoogle Scholar
  • 4 Su N, Xu X, Li C. et al. Generation of Fgfr3 conditional knockout mice. Int J Biol Sci 2010; 6 (04) 327-332
    CrossrefPubMedGoogle Scholar
  • 5 Rousseau F, Bonaventure J, Legeai-Mallet L. et al. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature 1994; 371 (6494): 252-254
    Google Scholar
  • 6 Shiang R, Thompson LM, Zhu YZ. et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 1994; 78 (02) 335-342
    CrossrefPubMedGoogle Scholar
  • 7 Kaushal A, Haldar R, Ambesh P. Anesthesia for an achondroplastic individual with coexisting atlantoaxial dislocation. Anesth Essays Res 2015; 9 (03) 443-446
    CrossrefPubMedGoogle Scholar
  • 8 Mohammadi M, Dikic I, Sorokin A, Burgess WH, Jaye M, Schlessinger J. Identification of six novel autophosphorylation sites on fibroblast growth factor receptor 1 and elucidation of their importance in receptor activation and signal transduction. Mol Cell Biol 1996; 16 (03) 977-989
    CrossrefPubMedGoogle Scholar
  • 9 Webster MK, Donoghue DJ. Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia. EMBO J 1996; 15 (03) 520-527
    CrossrefPubMedGoogle Scholar
  • 10 Fowler ES, Glinski LP, Reiser CA, Horton VK, Pauli RM. Biophysical bases for delayed and aberrant motor development in young children with achondroplasia. J Dev Behav Pediatr 1997; 18 (03) 143-150
    CrossrefPubMedGoogle Scholar
  • 11 Brinkmann G, Schlitt H, Zorowka P, Spranger J. Cognitive skills in achondroplasia. Am J Med Genet 1993; 47 (05) 800-804
    CrossrefPubMedGoogle Scholar
  • 12 Ruiz-Garcia M, Tovar-Baudin A, Del Castillo-Ruiz V. et al. Early detection of neurological manifestations in achondroplasia. Childs Nerv Syst 1997; 13 (04) 208-213
    CrossrefPubMedGoogle Scholar
  • 13 Hecht JT, Thompson NM, Weir T, Patchell L, Horton WA. Cognitive and motor skills in achondroplastic infants: neurologic and respiratory correlates. Am J Med Genet 1991; 41 (02) 208-211
    CrossrefPubMedGoogle Scholar
  • 14 He L, Horton W, Hristova K. Physical basis behind achondroplasia, the most common form of human dwarfism. J Biol Chem 2010; 285 (39) 30103-30114
    CrossrefPubMedGoogle Scholar