Table 3 LHX3 mutations in patients with CPHD3 phenotype
No. | Mutation | Amino acid change | Mutation Type | Reference | |
|---|---|---|---|---|---|
Authors | Journal [Reference No] | ||||
1 | c.148A > T | Lys50Ter | Nonsense | Rajab A et al. | Hum Mol Genet 2008 [32] |
2 | c.229C > T | Arg77Ter | Nonsense | Bonfig W et al. | Eur J Pediatr 2011 [5] |
3 | c.347A > G | Tyr116Cys | Missense | Netchine I et al. | Nat Genet 2000 [29] |
4 | c.368G > A | Cys123Tyr | Missense | Sobrier M et al. | J Clin Endocrinol Metab 2012 [35] |
5 | c.437G > T | Cys146Phe | Missense | Ramzan K et al. | BMC Endocr Disord |
6 | c.466C > T | Arg156Ter | Nonsense | Ramzan K et al. | BMC Endocr Disord |
7 | c.581A > G | Gln194Arg | Missense | Bechtold-Dalla Pozza S et al. | Horm Res Paediatr 2012 [34] |
8 | c.644C > T | Ala215Val | Missense | Pfaeffle R et al. | J Clin Endocrinol Metab 2007 [31] |
9 | c.687G > A | Trp229Ter | Nonsense | Pfaeffle R et al. | J Clin Endocrinol Metab 2007 [31] |
10 | c.267-3C > G | Splicing | Sobrier M et al. | J Clin Endocrinol Metab 2012 [35] | |
11 | c.470-2 A > G | Splicing | Kristrom B et al. | J Clin Endocrinol Metab 2009 [33] | |
12 | c.111delT | Gly38Alafs*140 | Deletion | Bhangoo A et al. | J Clin Endocrinol Metab 2006 [30] |
13 | c.302_303delG CinsTCCT | Gly101Valfs*78 | Small indel | Pfaeffle R et al. | J Clin Endocrinol Metab 2007 [31] |
14 | <1.4 Mb incl. entire gene | Gross deletion | Pfaeffle R et al. | J Clin Endocrinol Metab 2007 [31] | |
15 | 23 bp E3I3-3 to E3I3 + 20 | Gross deletion | Netchine I et al. | Nat Genet 2000 [29] | |
16 | 3088 bp incl. ex. 2-5 | Gross deletion | Rajab A et al. | Hum Mol Genet 2008 [32] | |