Kuburović Vladimir, Vukomanović Vladislav, Carcavilla Atilano, Ezquieta-Zubicaray Begona, Kuburović Nina
Department of Cardiology, Mother and Child Health Care Institute, Belgrade, Serbia.
Turk J Pediatr. 2011 Nov-Dec;53(6):687-91.
. 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 previouslyreported 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.
豹斑综合征2型（LS-2）（OMIM编号：611554）是一种罕见的常染色体显性遗传疾病，影响多个器官系统。我们报告了两名年龄不同的非亲缘关系女性，她们的表型最符合豹斑综合征的范畴，两人均在RAF1基因中检测到已证实的突变，此前在儿科患者中未见报道。在我们10岁的患者中，PTPN11基因分析呈阴性，但在补充分析中涉及RAF1基因，检测到序列变异Ser257Leu（770C>T，第7外显子），此前仅在一名35岁的LS女性中报道过。第二名患者是一名2岁女婴，在同一基因中发生Ser259Leu突变，该突变在几名努南综合征（NS）患者中有所描述，但在任何年龄的LS患者中均未见过。第一名女孩有室性和室上性期前收缩，第二名女孩有阵发性室上性心动过速发作。超声心动图检查显示两名患者均有双心室梗阻性肥厚型心肌病。
