Table 1

Clinical and molecular features of 30 patients with multiple lentigines LEOPARD syndrome

PatientsFamily†Age (years)Clinical featuresMutation
SkinHeartFacial dysmorphismsDeafnessMental retardationOther features
* Novel patients
Familial cases marked with letters (families A, B, C, and D): N.5, N.13, N.19, and N.21 were the index patients for families A, B, C, and D, respectively.
Full blown multiple lentigines LEOPARD syndrome with PTPN11 mutation
    N.19Multiple lentiginesArrhythmiaFullNoNoTyr279Cys
    N.25Multiple lentiginesPulmonary valve stenosisFullNoNoCoeliac diseaseTyr279Cys
    N.35Multiple lentigines Café au lait spotsHypertrophic cardiomyopathyMildNoNoTyr279Cys
    N.4*22Multiple lentiginesHypertrophic cardiomyopathyFullYesNoTyr279Cys
    N.5A49Multiple lentiginesNoneFullYesNoTyr279Cys
    N.6A29Multiple lentiginesNoneFullNoNoMyelodysplasiaTyr279Cys
    N.7A24Multiple lentiginesNoneFullNoNoTyr279Cys
    N.8*8Multiple lentigines Café au lait spotsArrhythmiaFullYesNoTyr279Cys
    N.9*21Multiple lentiginesHypertrophic cardiomyopathyFullNoNoTyr279Cys
    N.10*1Multiple lentigines Café au lait spotsHypertrophic cardiomyopathyFullNoYesHorseshoe kidney Coeliac disease HydrothoraxTyr279Cys
    N.1115Multiple lentigines Café au lait spotsAtrioventricular canal defect Hypertrophic cardiomyopathyFullNoNoThr468Met
    N.1212Multiple lentigines Café au lait spotsNoneMildNoNoThr468Met
    N.13B39Multiple lentigines Café au lait spotsNoneFullNoYesThr468Met
    N.14B8Multiple lentigines Café au lait spotsNoneFullNoYesThr468Met
    N.15 *B4NoNoneFullNoYesThr468Met
    N.1615Multiple lentigines Café au lait spotsArrhythmiaFullNoNoThr468Met
    N.174Multiple lentiginesHypertrophic cardiomyopathyFullNoYesThr468Met
    N.18*34Multiple lentiginesHypertrophic cardiomyopathyFullNoNoThr468Met
    N.19 *C35Multiple lentiginesNoneMildNoNoGly464Ala
    N.20 *C11Multiple lentigines Café au lait spotsNoneFullNoNoGly464Ala
    N.21 *D34Multiple lentiginesHypertrophic cardiomyopathyFullNoYesArg498Trp
    N.22 *D2Café au lait spotsHypertrophic cardiomyopathyFullNoYesArg498Trp
    N.23*13Multiple lentigines Café au lait spotsHypertrophic cardiomyopathyFullNoNoArg498Leu
    N.24*36Multiple lentiginesPulmonary valve stenosisMildUnilateralNoGln506Pro
Partial phenotype of multiple lentigines LEOPARD syndrome with PTPN11 mutation
    N.25*8 monthsNoHypertrophic cardiomyopathyNoYesYesTyr279Ser
    N.264Café au lait spotsHypertrophic cardiomyopathyFullNoNoThr468Met
    N.274Café au lait spotsHypertrophic cardiomyopathyFullNoNoThr468Met
Full blown multiple lentigines LEOPARD syndrome without PTPN11 mutation
    N.28*7Multiple lentigines Café au lait spotsPulmonary valve stenosisFullYesNo
    N.299Multiple lentiginesMitral valve anomaliesFullNoNo
    N.30*31Multiple lentiginesHypertrophic cardiomyopathyFullNoNo