Table 1 Literature reports of patients carrying mutation at codon 510 of PTPN11 gene
Mutation | Age at observation | Reported clinical diagnosis | Clinical features specific for NS-ML | Reference |
|---|---|---|---|---|
c.1529A > C; p.Q510P | Adult | NS-ML | Lentigines | Keren et al., 2004 |
c.1529A > C; p.Q510P | 12 years | NS-ML | Deafness Lentigines Café-au-lait spots Heart defect and ECG anomalies | Keren et al., 2004 |
c.1529A > C; p.Q510P | 25 years | NS-ML | Deafness Lentigines Café-au-lait spots PVS | Keren et al., 2004 |
c.1528C > G; p.Q510E | 14 months | NS | HCM Deafness | Takahashi et al., 2005 |
c.1529A > C; p.Q510P | Adult | NS-ML | Lentigines | Kalidas et al., 2005 |
c.1529A > C; p.Q510P | Adult | NS-ML | Deafness Lentigines | Kalidas et al., 2005 |
c.1529A > C; p.Q510P | 1 year | NS-ML | PVS, ASD, ECG anomalies | Kalidas et al., 2005 |
c.1528C > G; p.Q510E | 2 years | NS-ML | HCM Café-au lait spots Lentigines | Digilio et al., 2006 |
c.1528C > G; p.Q510E | 2 years | NS-ML | HCM Café-au-lait spots | Digilio et al., 2006 |
c.1528C > G; p.Q510E | 2 months | NS | HCM | Faienza et al., 2009 |
c.1528C > G; p.Q510E | 37 years | NS-ML | HCM Lentigines Deafness | Lehmann et al., 2009 |
c.1528C > G; p.Q510E | 5 years | NS | HCM, PVS Deafness | Derbent et al., 2010 |
c.1529A > C; p.Q510P | 4 years | NS or NS-ML | Café-au-lait spot | Brasil et al., 2010 |
c.1528C > G; p.Q510E | infant | NS-ML | HCM | Ganigara et al., 2011 |
c. 1530 G > C; p.Q510H | 38 years | NS-ML | HCM, PVS, ASD Lentigines Cafe-au-lait spots | Wakabayashi et al., 2011 |
c.1528C > G; p.Q510E | 20 months | NS-ML | HCM Deafness | Hahn et al., 2015 |