Disease relevance of LEOPARD Syndrome

• We screened nine patients with ML/LEOPARD syndrome (including a mother-daughter pair) and two children with NS who had multiple café au lait spots, for mutations in the NS gene, PTPN11, and found, in 10 of 11 patients, one of two new missense mutations, in exon 7 or exon 12 [1].
• Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes [2].

High impact information on LEOPARD Syndrome

• We hypothesize that some patients now diagnosed with LEOPARD syndrome have in fact a mutation in the NF1 gene, whereas in other patients with LEOPARD syndrome, a different gene might be involved [3].
• LEOPARD syndrome and hypertrophic obstructive cardiomyopathy: a case report [4].
• Generalized lentigines associated with multiple noncutaneous features, as in the LEOPARD syndrome and the Carney complex, have been well reported in the literature [5].
• These include cardio-facial-cutaneous syndrome, LEOPARD syndrome, neurofibromatosis-Noonan syndrome and Costello syndrome [6].
• Primary pulmonary hypertension in leopard syndrome [7].

Biological context of LEOPARD Syndrome

• Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11 [8].

Gene context of LEOPARD Syndrome

• PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects [9].

References