Evidence map›Paper›PMID 30842599›Full record

ArticleJournal of human genetics2019

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 and 6 more

Abstract readCase Reports
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In one paragraph

Article in Journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 45% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Epilepsy andGenes · 2021
    Observational
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors at 2 institutions in 1 country.

Sato Suzuki-MuromotoDepartment of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan. sato.suzuki@kmf.biglobe.ne.jp.ORCID http://orcid.org/0000-0002-7811-9189
Takuya MiyabayashiDepartment of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan.
Koki NagaiDepartment of Medical Genetics, Tohoku University School of Medicine, Sendai, 980-8574, Japan.
Saeko Yamamura-SuzukiDepartment of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan.
Mai AnzaiDepartment of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan.
Yusuke TakezawaDepartment of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan.
Ryo SatoDepartment of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan.
Yukimune OkuboDepartment of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan.
Wakaba EndoDepartment of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan.
Takehiko InuiDepartment of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan.
Noriko TogashiDepartment of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan.
Atsuo KikuchiDepartment of Pediatrics, Tohoku University School of Medicine, Sendai, 980-8574, Japan.
Tetsuya NiihoriDepartment of Medical Genetics, Tohoku University School of Medicine, Sendai, 980-8574, Japan.
Yoko AokiDepartment of Medical Genetics, Tohoku University School of Medicine, Sendai, 980-8574, Japan.
Shigeo KureDepartment of Pediatrics, Tohoku University School of Medicine, Sendai, 980-8574, Japan.
Kazuhiro HaginoyaDepartment of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan.
Miyagi Children's Hospital · JPTohoku University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

Amino Acid SequenceSequence DeletionChild, PreschoolEctodermal DysplasiaFaciesFailure to ThriveHeart Defects, CongenitalHumansLeucineMaleProto-Oncogene Proteins B-rafSeverity of Illness IndexBRAF protein, humanLeucineProto-Oncogene Proteins B-raf

Identifiers

PMID30842599
OpenAlexW2919448666

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.