Achondroplasia. Detection of the c.1138G>A (p.Gly380Arg) and c.1138G>C (p.Gly380Arg) mutations in the FGFR3 gene [1 gene]

Achondroplasia is the most common cause of disproportionate short stature. Patients present with rhizomelic shortening of the extremities, macrocephaly, and characteristic facial features with frontal prominence and retrusion of the midface. In childhood, hypotonia is typical, and the acquisition of motor milestones is often delayed. Intelligence and life expectancy are usually ordinary, although compression of the craniocervical junction increases child mortality. Other complications include obstructive sleep apnea, kyphosis, and spinal stenosis.

Achondroplasia: 1 / 25,000 newborns worldwide (ORPHA:15)

Approximately 99% of patients with achondroplasia are carriers of one of the two variants analyzed through this service. Therefore, given the clinical diagnosis of achondroplasia, this service would be indicated from the outset. If a non-informative result is obtained, it would be recommended the skeletal dysplasias panel.

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Achondroplasia. Detection of the c.1138G>A (p.Gly380Arg) and c.1138G>C (p.Gly380Arg) mutations in the FGFR3 gene

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Technique: Sanger

Turnaround time (TAT): 25 days

Ref. S-202313227

Achondroplasia. Detection of the c.1138G>A (p.Gly380Arg) and c.1138G>C (p.Gly380Arg) mutations in the FGFR3 gene: View panel
  • FGFR3

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Phenotypes

Achondroplasia

References

  1. Legare JM. Achondroplasia. 1998 Oct 12 [Updated 2023 May 11]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1152/