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

Sato Suzuki-Muromoto, Takuya Miyabayashi, Koki Nagai, Saeko Yamamura-Suzuki, Mai Anzai, Yusuke Takezawa, Ryo Sato, Yukimune Okubo, Wakaba Endo, Takehiko Inui, Noriko Togashi, Atsuo Kikuchi, Tetsuya Niihori, Yoko Aoki, Shigeo Kure, Kazuhiro Haginoya

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)


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, involuntary movements, early onset refractory seizures, and delayed myelination on brain magnetic resonance imaging as well as a polycystic and dysplastic kidney, which are previously unreported anomalies in CFC or RAS/mitogen-activated protein kinase syndromes related to BRAF variant. CFC syndrome, especially caused by BRAF variant, should be included in the differential diagnosis of patients with developmental and epileptic encephalopathies and hyperekplexia. Furthermore, we need to keep in mind that missense variants or the deletion of Leucine-485 may be associated with severe symptoms.

Original languageEnglish
Pages (from-to)499-504
Number of pages6
JournalJournal of Human Genetics
Issue number5
Publication statusPublished - 2019 May 1


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