Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome

The genotype-phenotype correlation in BRAF variant in cardio-facio-cutaneous (CFC) syndrome is not clearly defined. Here we report a case with a severe clinical phenotype and a novel BRAF variant, p.Leu485del. The present case showed severe intellectual disability, impaired awareness, hyperekplexia,...

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Veröffentlicht in:	Journal of human genetics 2019-05, Vol.64 (5), p.499-504
Hauptverfasser:	Suzuki-Muromoto, Sato, Miyabayashi, Takuya, Nagai, Koki, Yamamura-Suzuki, Saeko, Anzai, Mai, Takezawa, Yusuke, Sato, Ryo, Okubo, Yukimune, Endo, Wakaba, Inui, Takehiko, Togashi, Noriko, Kikuchi, Atsuo, Niihori, Tetsuya, Aoki, Yoko, Kure, Shigeo, Haginoya, Kazuhiro
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Amino Acid Sequence Case reports Child, Preschool Convulsions & seizures Defects Differential diagnosis Ectodermal Dysplasia - genetics Ectodermal Dysplasia - pathology Electroencephalography Epilepsy Facies Failure to Thrive - genetics Failure to Thrive - pathology Genotype & phenotype Genotypes Heart Defects, Congenital - genetics Heart Defects, Congenital - pathology Humans Intellectual disabilities Kinases Leucine Magnetic resonance imaging Male MAP kinase Mutation Myelination Neuroimaging NMR Nuclear magnetic resonance Ostomy Phenotypes Polycystic kidney Protein kinase Proto-Oncogene Proteins B-raf - genetics Seizures Sequence Deletion Severity of Illness Index Startle response
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