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

doi:10.1038/s41439-020-0107-1

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

Hum Genome Var. 2020 Jun 1:7:19. doi: 10.1038/s41439-020-0107-1. eCollection 2020.

Authors

Yuto Kondo¹, Kohei Aoyama¹, Hisato Suzuki², Ayako Hattori¹, Ikumi Hori¹, Koichi Ito¹, Aya Yoshida¹, Mari Koroki^{1

3}, Kentaro Ueda^{1

3}, Kenjiro Kosaki², Shinji Saitoh¹

Affiliations

¹ Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
² Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
³ Department of Pediatrics, Japanese Red Cross Nagoya Daini Hospital, Nagoya, Japan.

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.

Keywords: Growth disorders; Neurodevelopmental disorders.