Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism.
OBJECTIVE
To identify the gene causing tarsal/carpal coalition syndrome (TCC).


METHODS
Individuals from three kindreds with TCC and normal hearing were used to map TCC and screen for mutations in Noggin (NOG).


RESULTS
Three different missense mutations in NOG were found. Two of these mutations are identical to mutations previously reported to cause proximal symphalangism (SYM1).


CONCLUSIONS
TCC is allelic to SYM1, and at least two different mutations in NOG can result in either TCC or SYM1 in different families. This finding suggests that phenotypic differences between these conditions are caused by epistatic modifiers of NOG.
Dixon
M E
ME
Department of Human Genetics, University of Utah, Salt Lake City, Utah, USA.
Armstrong
P
P
Stevens
D B
DB
Bamshad
M
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D001483:Base Sequence; D002348:Carpal Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002352:Carrier Proteins; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D011859:Radiography; D013577:Syndrome; D013639:Tarsal Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D000099176:Noggin Protein
D002352:Carrier Proteins; D011506:Proteins; D000099176:Noggin Protein