| Title | Hypochondroplasia and acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the FGFR3 gene? | | Author(s) | Castro-Feijoo L, Loidi L, Vidal A, Parajes S, Roson E, Alvarez A, Cabanas P, Barreiro J, Alonso A, Dominguez F, Pombo M | | Institution | L Castro-Feijoo, Unidad de Endocrinologia Pediatrica, Crecimiento y Adolescencia Departamento de Pediatria, Hospital Clinico Universitario y Universidad de Santiago de Compostela, Santiago de Compostela, Spain. | | Source | Eur J Endocrinol 2008 Jun 26. | | Abstract | Hypochondroplasia (HCH) is a skeletal dysplasia inherited in an autosomal dominant manner due, in most cases, to mutations in the fibroblast growth factor receptor 3 (FGFR3). Acanthosis nigricans (AN) is a velvety and papilomatous pigmented hyperkeratosis of the skin which has been recognized in some genetic disorders more severe than HCH involving the FGFR3 gene. Objective and design: After initial study of the proband, who had been consulted for short stature and who also presented AN, the study was extended to the patient' s mother and to 12 additional family members.
Methods: A clinical, biochemical and radiological study was performed on the family. In addition, exon 11 and 13 of FGFR3 were analyzed.
Results: The proband and ten relatives presented HCH plus AN and the analysis of FGFR3 showed the p.Lys650Thr mutation. The members with normal phenotypes were non carriers of the mutation.
Conclusion: This is the first report of a large pedigree with the clinical phenotype of HCH plus AN due to a FGFR3 mutation, p.Lys650Thr. This finding demonstrates the coexistence of both conditions due to the same mutation and it might represent a true complex which should be further established by searching for AN in mild HCH patients or for HCH in patients with AN. | | Language | ENG | | Pub Type(s) | JOURNAL ARTICLE
| | PubMed ID | 18583390 |
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