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A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly

Publié dansHuman mutation, vol. 35, no. 8, p. 959-963
Date de publication2014
Résumé

Most reported mutations in the FGFR3 gene are dominant activating mutations that cause a variety of short-limbed bone dysplasias including achondroplasia and syndromic craniosynostosis. We report the phenotype and underlying molecular abnormality in two brothers, born to first cousin parents. The clinical picture is characterized by tall stature and severe skeletal abnormalities leading to inability to walk, with camptodactyly, arachnodactyly, and scoliosis. Whole exome sequencing revealed a homozygous novel missense mutation in the FGFR3 gene in exon 12 (NM_000142.4:c.1637C>A: p.(Thr546Lys)). The variant is found in the kinase domain of the protein and is predicted to be pathogenic. It is located near a known hotspot for hypochondroplasia. This is the first report of a homozygous loss-of-function mutation in FGFR3 in human that results in a skeletal overgrowth syndrome.

Citation (format ISO)
MAKRYTHANASIS, Periklis et al. A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly. In: Human mutation, 2014, vol. 35, n° 8, p. 959–963. doi: 10.1002/humu.22597
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Identifiants
ISSN du journal1059-7794
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Informations techniques

Création26/11/2014 16:15:00
Première validation26/11/2014 16:15:00
Heure de mise à jour14/03/2023 22:18:41
Changement de statut14/03/2023 22:18:41
Dernière indexation16/01/2024 14:35:49
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