Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype

We report two patients with clinical and radiological findings of achondroplasia, who had the most common FGFR3 mutation occurring in thanatophoric dysplasia type I and hypochondroplasia, respectively. Thanatophoric dysplasia is usually a lethal condition, but the patient carrying this mutation is a...

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Bibliographic Details
Published in:American journal of medical genetics 2001-12, Vol.104 (4), p.277-281
Main Authors: Camera, Gianni, Baldi, Maurizia, Strisciuglio, Giuseppe, Concolino, Daniela, Mastroiacovo, Pierpaolo, Baffico, Maria
Format: Article
Language:English
Subjects:
achondroplasia
Achondroplasia - genetics
Achondroplasia - pathology
Base Sequence
Biological and medical sciences
Diseases of the osteoarticular system
DNA - chemistry
DNA - genetics
DNA Mutational Analysis
FGFR3 mutations
Humans
hypochondroplasia
Infant, Newborn
Male
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Medical sciences
Mutation, Missense
Phenotype
Protein-Tyrosine Kinases
Receptor, Fibroblast Growth Factor, Type 3
Receptors, Fibroblast Growth Factor - genetics
Thanatophoric Dysplasia - genetics
Thanatophoric Dysplasia - pathology
thanatophoric dysplasia type I
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Summary:We report two patients with clinical and radiological findings of achondroplasia, who had the most common FGFR3 mutation occurring in thanatophoric dysplasia type I and hypochondroplasia, respectively. Thanatophoric dysplasia is usually a lethal condition, but the patient carrying this mutation is alive and presents a medical history similar to that of patients with achondroplasia. The events leading to such a discrepancy between genotype and phenotype are unclear. These rare cases may influence an appropriate medical and genetic counseling. © 2001 Wiley‐Liss, Inc.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.10092