CD00002

CD00002 DNA from LCL

Description:

FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3
MUENKE SYNDROME

Affected:

No Data

Sex:

Male

Age:

12 YR (At Sampling)

Overview

Repository

Centers for Disease Control and Prevention Repository

Class

Disorders of Connective Tissue, Muscle, and Bone

Quantity

10ug

Quantitation Method

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Biopsy Source

Peripheral vein

Sample Source

DNA from LCL

Race

Caucasian

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Donor subject has one allele with a C>G transversion at nucleotide 749 in the coding cDNA sequence of the FGFR3 gene (749C>G) causing a substitution of arginine for proline at codon 250 [Pro250Arg (P250R)]; the second allele tested negative for the P250R mutation

Characterizations

Gene

FGFR3

Chromosomal Location

4p16.3

Allelic Variant 1

134934.0014; MUENKE SYNDROME

Identified Mutation

PRO250ARG; Bellus et al. [Nature Genet. 14: 174-176 (1996)] described a pro250-to-arg (P250R) amino acid substitution in FGFR3 (caused by a C-to-G transversion at position 749 of the coding cDNA sequence) in 10 unrelated patients with nonsyndromic autosomal dominant or sporadic craniosynostosis. This mutation is in the extracellular domain of the FGFR3 protein and occurs precisely at the position within the FGFR3 protein analogous to that of mutations in FGFR1 (P252R; 136350.0001) and FGFR2 (P253R; 176943.0011), previously reported in Pfeiffer (101600) and Apert syndromes, respectively.