Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
Cell, 1994•cell.com
Achondroplasia(ACH) is the most common genetic form of dwarfism. This disorder is
inherited as an autosomal dominant trait, although the majority of cases are sporadic. A
gene for ACH was recently localized to 4~ 16.3 by linkage analyses. The ACH candidate
region includes the gene encoding fibroblast growth factor receptor 3 (FGFR3), which was
originally considered as a candidate for the Huntington's disease gene. DNA studies
revealed point mutations in the FGFRS gene in ACH heterozygotes and homozygotes. The …
inherited as an autosomal dominant trait, although the majority of cases are sporadic. A
gene for ACH was recently localized to 4~ 16.3 by linkage analyses. The ACH candidate
region includes the gene encoding fibroblast growth factor receptor 3 (FGFR3), which was
originally considered as a candidate for the Huntington's disease gene. DNA studies
revealed point mutations in the FGFRS gene in ACH heterozygotes and homozygotes. The …
Summary
Achondroplasia(ACH) is the most common genetic form of dwarfism. This disorder is inherited as an autosomal dominant trait, although the majority of cases are sporadic. A gene for ACH was recently localized to 4~ 16.3 by linkage analyses. The ACH candidate region includes the gene encoding fibroblast growth factor receptor 3 (FGFR3), which was originally considered as a candidate for the Huntington’s disease gene. DNA studies revealed point mutations in the FGFRS gene in ACH heterozygotes and homozygotes. The mutation on 16 of the 16 ACH-affected chromosomes was the same, a GA transition, at nucleotide 1136 of the cDNA. The mutation on the only ACH-affected chromosome 4 without the GA transition at nucleotide 1136 had a GC transversion at this same position. Both mutations result in the substitution of an arginine residue for a glycine at position 360 of the mature protein, which is in the transmembrane domain of FGFRI.
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