The Turkish Journal of Pediatrics 2011 , Vol 53 , Num 6
Two Cases of LEOPARD Syndrome – RAF1 Mutations Firstly Described in Children
Departments of 1Cardiology, and 4Public Health, Mother and Child Health Care Institute, Belgrade, Serbia, and 2Department of Pediatrics, Hospital Virgen de la Salud, Toledo, and 3Laboratorio de Diagnóstico Molecular, Hospital Universitario Gregorio Marañón, Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER, Instituto de Salud Carlos III, Madrid, Spain Kuburović V, Vukomanović V, Carcavilla A, Ezquieta–Zubicaray B, Kuburović N. Two cases of LEOPARD syndrome - RAF1 mutations firstly described in children. Turk J Pediatr 2011; 53: 687-691.

LEOPARD syndrome 2 (LS-2) (OMIM #611554) is a rare, dominantly inherited genetic disorder affecting multiple organ systems. We report two unrelated females of different ages whose phenotype fits best in the category of LEOPARD syndrome, both with proven mutations in the RAF1 gene not previously reported in pediatric patients. In our 10-year-old patient, who was negative in the PTPN11 gene analysis but involving the RAF1 gene in a complementary analysis, the sequence variant Ser257Leu (770C>T, exon 7) was detected, which previously had been reported in only one 35-year-old woman with LS. The second patient was a two-year-old female infant with Ser259Leu mutation in the same gene, described in several patients with Noonan syndrome (NS) but not in LS patients of any age. The first girl had ventricular and supraventricular extrasystoles, and the second had episodes of paroxysmal supraventricular tachycardia. Echocardiographic examination revealed biventricular obstructive hypertrophic cardiomyopathy in both patients. Keywords : LEOPARD syndrome, RAF1, p.Ser257Leu mutation, p.Ser259Leu mutation, obstructive hypertrophic cardiomyopathy.

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