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

Global Medical Genetics, Table of Contents

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

Authors

Mahmut C. Ergoren

¹Department of Medical Genetics, Faculty of Medicine, Near East University, Nicosia, Cyprus
Erdal Eren

²Department of Pediatric Endocrinology, Faculty of Medicine, Bursa Uludağ University, Bursa, Turkey
Elena Manara

³MAGI’s LAB S.r.l., Rovereto, Italy
Stefano Paolacci

³MAGI’s LAB S.r.l., Rovereto, Italy
Pinar Tulay

¹Department of Medical Genetics, Faculty of Medicine, Near East University, Nicosia, Cyprus
Sebnem O. Sag

⁴Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey
Matteo Bertelli

³MAGI’s LAB S.r.l., Rovereto, Italy
Gamze Mocan

¹Department of Medical Genetics, Faculty of Medicine, Near East University, Nicosia, Cyprus
Sehime Gulsun Temel

⁴Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey

⁵Department 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

achondroplasia - FGFR3 mutations - psychomotor delay

Full Text

References

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