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

• Published in: Global medical genetics Vol. 8; no. 3; pp. 100 - 103
• Main Authors: Ergoren, Mahmut C., Eren, Erdal, Manara, Elena, Paolacci, Stefano, Tulay, Pinar, Sag, Sebnem O., Bertelli, Matteo, Mocan, Gamze, Temel, Sehime Gulsun
• Format: Journal Article
• Language: English
• Published: Rüdigerstraße 14, 70469 Stuttgart, Germany Georg Thieme Verlag KG 01-09-2021; KeAi Communications Co., Ltd
• Subjects: achondroplasia; fgfr3 mutations; Original; Original Article; psychomotor delay; FGFR3 mutations; achondroplasia; psychomotor delay
• ISSN: 2699-9404; 2699-9404
• DOI: 10.1055/s-0041-1725070

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.