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Updated: Feb 26, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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非孤立性Dandy-Walker奇形：全エクソームシーケンシングの有効性と表現型の拡大

Sarah Araji1,2, Xiaonan Zhao2,3, Jill A Rosenfeld2

  • 1Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, USA.

Clinical genetics
|February 25, 2026
PubMed
まとめ

臨床全エクソームシーケンシング（cES）は、Dandy-Walker奇形プラス（DWM+）症例に対して高い診断収率を提供し、標準パネルでは見逃されていた遺伝的原因を特定します。初期の分子診断が不明瞭な場合には、このアプローチを検討すべきです。

キーワード:
Dandy-Walker奇形小脳全エクソームシーケンシング遺伝子パネル表現型の拡大

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Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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