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

Mahmut C Ergoren; Erdal Eren; Elena Manara; Stefano Paolacci; Pinar Tulay; Sebnem O Sag; Matteo Bertelli; Gamze Mocan; Sehime Gulsun Temel

doi:10.1055/s-0041-1725070

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

Glob Med Genet. 2021 Sep;8(3):100-103. doi: 10.1055/s-0041-1725070. Epub 2021 May 21.

Authors

Mahmut C Ergoren¹, Erdal Eren², Elena Manara³, Stefano Paolacci³, Pinar Tulay¹, Sebnem O Sag⁴, Matteo Bertelli³, Gamze Mocan¹, Sehime Gulsun Temel^{4

5}

Affiliations

¹ Department of Medical Genetics, Faculty of Medicine, Near East University, Nicosia, Cyprus.
² Department of Pediatric Endocrinology, Faculty of Medicine, Bursa Uludağ University, Bursa, Turkey.
³ MAGI's LAB S.r.l., Rovereto, Italy.
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.

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: FGFR3 mutations; achondroplasia; psychomotor delay.

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/ ).