Table 4.

Craniosynostosis Clinic Populations with a Nonspecific Phenotype Tested for the p.Pro250Arg FGFR3 Pathogenic Variant

Phenotypep.Pro250Arg Mutation
Detection Frequency
"Apparently isolated" unilateral coronal synostosis4%-12%Moloney et al [1997]
Reardon et al [1997]
Gripp et al [1998]
Renier et al [2000]
Mulliken et al [2004]
"Apparently isolated" or "nonsyndromic" bilateral
coronal synostosis
~30%-40%Moloney et al [1997]
Renier et al [2000]
Proband with coronal synostosis and positive
family history 1
9%-70%Reardon et al [1997]
Renier et al [2000]

FGFR1 & FGFR2 pathogenic variants excluded

From: Muenke Syndrome

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