Leopard Syndrome 2

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

PTPN11, RAF1, BRAF, MAP2K1, SOS1, PTEN, KRAS, HRAS, SHOC2, EPHA2, SOS2, RRAS, RIT1, LZTR1, RASA2, RASA1, NRAS, PPP1R13L, MRAS, MAP2K2, PPP1CB, A2ML1, AKT1, MAPK3, MTOR, NF1, PIK3CG, TSC1, CDC73, TESC

PTPN11, RAF1, BRAF, MAP2K1, SOS1, PTEN, KRAS, HRAS, SHOC2, EPHA2, SOS2, RRAS, RIT1, LZTR1, RASA2, RASA1, NRAS, PPP1R13L, MRAS, MAP2K2, PPP1CB, A2ML1, AKT1, MAPK3, MTOR, NF1, PIK3CG, TSC1, CDC73, TESC, SASH1, ZHX2, DSP, EGF, EPHB2, FBN1, MAPK1, FXN, SLC12A3, GAB1, IRS1, NFATC4, PIK3CA, PIK3CB, PIK3CD, MAP2K7, ACP1

Drugs

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A number sign (#) is used with this entry because LEOPARD syndrome-2 (LPRD2) is caused by heterozygous mutation in the RAF1 gene (164760) on chromosome 3p25.

For a phenotypic description and a discussion of genetic heterogeneity of LEOPARD syndrome, see 151100.

Clinical Features

Pandit et al. (2007) reported 2 women with LEOPARD syndrome-2. Both patients had short stature, hypertrophic cardiomyopathy, lentigines and cafe au lait spots, craniofacial anomlies including dolichocephaly, downslanting palpebral fissures, hypertelorism, thick lips, low-set ears with thickened helix, and prominent chin, short webbed nedk, cubitus valgus, and delayed puberty. One patient had mitral valve anomaly and the other had pulmonary valve stenosis.

Molecular Genetics

Pandit et al. (2007) analyzed the RAF1 gene in 6 individuals with LEOPARD syndrome who did not have mutations in the PTPN11 gene (176876), and identified 2 unrelated patients with heterozygous missense mutations (S257L, 164760.0001 and L613V, 164760.0004).