De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes

Yuto Kondo, Kohei Aoyama, Hisato Suzuki, Ayako Hattori, Ikumi Hori, Koichi Ito, Aya Yoshida, Mari Koroki, Kentaro Ueda, Kenjiro Kosaki, Shinji Saitoh

研究成果: Article査読

抄録

We report a patient with developmental delay, extremely short stature, small hands, dysmorphic facial features, hearing loss, and epilepsy carrying a de novo 2.76-Mb deletion of 2q36.3q37.1, including TRIP12 and NPPC. TRIP12 haploinsufficiency causes developmental delay with isolated dysmorphic facial features, whereas NPPC haploinsufficiency causes short stature and small hands. This is the first report of a unique phenotype, which is secondary to a microdeletion encompassing TRIP12 and NPPC.

本文言語English
論文番号19
ジャーナルHuman Genome Variation
7
1
DOI
出版ステータスPublished - 2020 12 1

ASJC Scopus subject areas

  • 生化学
  • 分子生物学
  • 遺伝学

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