๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia

โœ Scribed by Stoilov, Ivaylo ;Kilpatrick, Michael W. ;Tsipouras, Petros

Book ID
102703509
Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
572 KB
Volume
55
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

โœฆ Synopsis

Achondroplasia is the most common type of genetic dwarfism. It is characterized by disproportionate short stature and other skeletal anomalies resulting from a defect in the maturation of the chondrocytes in the growth plate of the cartilage. Recent studies mapped the achondroplasia gene on chromosome region 4pl6.3 and identified a common mutation in the gene encoding the fibroblast growth factor receptor 3 (FGFR3). In an analysis of 19 achondroplasia families from a variety of ethnic backgrounds we confirmed the presence of the G380R mutation in 21 of 23 achondroplasia chromosomes studied. In contrast, the G380R mutation was not found in any of the 8 hypochondroplasia chromosomes studied. Furthermore, linkage studies in a 3-generation family with hypochondroplasia show discordant segregation with markers in the 4p16.3 region suggesting that at least some cases of hypochondroplasia are caused by mutations in a gene other than FGFR3.

๐Ÿ“œ SIMILAR VOLUMES

Common mutations in the fibroblast growt
Common mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism
โœ Bonaventure, J.; Rousseau, F.; Legeai-Mallet, L.; Le Merrer, M.; Munnich, A.; Ma ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 37 KB ๐Ÿ‘ 2 views

The mapping of the achondroplasia locus to the short arm of chromosome 4 and the subsequent identification of a recurrent missense mutation (G380R) in the fibroblast growth factor receptor 3 (FGFR-3) gene has been followed by the detection of common FGFR-3 mutations in two clinically related disorde

Another observation of atypical radiolog
Another observation of atypical radiologic findings in achondroplasia not due to a common mutation of the FGFR-3 gene: Reply to Dr. Gorlin
โœ Nishimura, Gen; Takada, Fumio ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 433 KB ๐Ÿ‘ 1 views

We are grateful for Dr. Gorlin's comment on our report ''Atypical Radiological Findings in Achondroplasia With Uncommon Mutation of the Fibroblast Growth Factor Receptor-3 (FGFR-3) Gene (Gly to Cys Transition at Codon 375)' . Dr. Gorlin postulates that the atypical skeletal changes of the achondropl

An improved methodology for the detectio
An improved methodology for the detection of the common mutation in the FGFR3 gene responsible for achondroplasia
โœ Robert W. Lanning; Charlotte A. Brown ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 154 KB

## Communicated by Lap-Chee Tsui Homozygous achondroplasia is a neonatal lethal condition which can only be diagnosed in the first trimester of pregnancy by molecular analysis. The vast majority of patients with achondroplasia have a GรƒA substitution at position 1138 of the fibroblast growth facto