Table 1

 Point mutations in the SHOX gene

ExonAmino acid changeNucleotide changeMutation typeDiagnosisNew mutation/ previously reported
ISS, non-syndromic short stature; LWS, Léri-Weill syndrome.
The amino acid changes in bold indicate the homeobox.
2E61Xc.181G>TNonsenseLWSNew
3Q112Pc.335A>CMissenseISSNew
3K116Ec.346A>GMissenseISSNew
3 L132V c.394C>GMissenseLWSGrigelioniene et al 200039
Schneider et al 200529
3 Y141D c.421T>GMissenseISSSchneider et al 200529
3 E148X c.442G>TNonsenseLWSNew
4 W164X c.492G>ANonsenseISSNew
4 R168W c.502C>TMissenseISSSchneider et al 200529
4 R168L c.503G>TMissenseISSNew
4 A170P c.508G>CMissenseISSSchneider et al 200529
Sabherwal et al 200430
4 R173H c.518G>AMissenseLWSSchneider et al 200529
Binder et al 200310
5R195Xc.583C>TNonsenseLWSRao et al 19975
Ross et al 200538
5R195Xc.583C>TNonsenseLWSRao et al 19975
Ross et al 200538
6ainsH229-L232c.685-696insCAC CCGCACCTGDuplicationISSNew
6bX226Rc.676T>CMissenseISSRoss et al 200538
6bX226Rc.676T>CMissenseLWSRoss et al 200538