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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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