A unique TBX5 microdeletion with microinsertion detected in patient with Holt-Oram syndrome

Mikio Morine, Tomohiro Kohmoto, Kiyoshi Masuda, Hidehito Inagaki, Miki Watanabe, Takuya Naruto, Hiroki Kurahashi, Kazuhisa Maeda, Issei Imoto

研究成果: Article査読

抄録

Holt-Oram syndrome (HOS) is an autosomal dominant condition characterized by upper limb and congenital heart defects and caused by numerous germline mutations of TBX5 producing preterminal stop codons. Here, we report on a novel and unusual heterozygous TBX5 microdeletion with microinsertion (microindel) mutation (c.627delinsGTGACTCAGGAAACGCTTTCCTGA), which is predicted to synthesize a truncated TBX5 protein, detected in a sporadic patient with clinical features of HOS prenatally diagnosed by ultrasonography. This uncommon and relatively large inserted sequence contains sequences derived from nearby but not adjacent templates on both sense and antisense strands, suggesting two possible models, which require no repeat sequences, causing this complex microindel through the bypass of large DNA adducts via an error-prone DNA polymerase-mediated translesion synthesis.

本文言語English
ページ(範囲)3192-3196
ページ数5
ジャーナルAmerican Journal of Medical Genetics, Part A
167
12
DOI
出版ステータスPublished - 01-12-2015

All Science Journal Classification (ASJC) codes

  • 遺伝学
  • 遺伝学(臨床)

フィンガープリント

「A unique TBX5 microdeletion with microinsertion detected in patient with Holt-Oram syndrome」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

引用スタイル