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

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Article number19
JournalHuman Genome Variation
Volume7
Issue number1
DOIs
Publication statusPublished - 2020 Dec 1

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics

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