Publication: Psychomotor delay in a child with fgfr3 g380r pathogenic mutation causing achondroplasia
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Date
2021-05-21
Authors
Authors
Ergoren, Mahmut C.
Manara, Elena
Paolacci, Stefano
Tulay, Pinar
Bertelli, Matteo
Mocan, Gamze
Journal Title
Journal ISSN
Volume Title
Publisher
Thieme Medical Publication
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 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.
Description
Keywords
Growth-factor receptor-3, Transmembrane domain, Activation, Skills, Form, Achondroplasia, Fgfr3 mutations, Psychomotor delay, Science & technology, Life sciences & biomedicine, Genetics & heredity, Genetics & heredity