Article
Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function.
American journal of medical genetics. Part A - 1 Mar 2021
Meyer April N, Modaff Peggy, Wang Clark G, Wohler Elizabeth, Sobreira Nara L, Donoghue Daniel J, Pauli Richard M
Abstract excerpt
We describe an individual in whom clinical and radiographic features are typical for achondroplasia, but in whom the common variants of FGFR3 that result in achondroplasia are absent. Whole exome sequencing demonstrated a novel, de novo 6 base pair tandem duplication in FGFR3 that results in the insertion of Ser-Phe after position Leu324. in vitro studies showed that this variant results in aberrant dimerization,...
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