小児期の突然の原因不明死の1例に見られるデノボ型BRPF1バリアント

A de novo BRPF1 variant in a case of Sudden Unexplained Death in Childhood.

• Christine Keywan
• Ingrid A Holm
• Annapurna Poduri
• Catherine A Brownstein
• Sanda Alexandrescu
• Jennifer Chen
• Christopher Geffre
• Richard D Goldstein

抄録

Sudden Unexplained Death in Childhood（SUDC）と呼ばれる、完全な検死と調査を経ても原因不明のまま死亡することは稀であり、理解が不十分である。本症例報告では，言語遅延と眼瞼下垂の既往歴を持つ3歳の男児が，原因不明のまま就寝中に突然死したことを報告する．死後の評価で，Dysmorphic Facies and Ptosisを伴う知的発達障害症候群（IDDDFP）と関連している遺伝子BRPF1の病原性de novoフレームシフト変異が同定された．これまで突然死とは関連していなかったBRPF1の病原性変異がSUDCの症例で発見されたことは、この子の家族にとって意味があり、SUDC研究のより広い分野に貢献している。この症例は、SUDCにおける死後の遺伝子検査の有用性を示している。

Sudden Unexplained Death in Childhood (SUDC), the death of a child that remains unexplained after a complete autopsy and investigation, is a rare and poorly understood entity. This case report describes a 3-year-old boy with history of language delay and ptosis, who died suddenly in his sleep without known cause. A pathogenic de novo frameshift mutation in BRPF1, a gene which has been associated with the syndrome of Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP), was identified during a post-mortem evaluation. The finding of a pathogenic variant in BRPF1, which has not previously been associated with sudden death, in an SUDC case has implications for this child's family and contributes to the broader field of SUDC research. This case demonstrates the utility of post-mortem genetic testing in SUDC.

Copyright © 2020. Published by Elsevier Masson SAS.