Narrowing down the region responsible for 1q23.3q24.1 microdeletion by identifying the smallest deletion

Takao Hoshina; Toshiyuki Seto; Taro Shimono; Hiroaki Sakamoto; Torayuki Okuyama; Takashi Hamazaki; Toshiyuki Yamamoto

doi:10.1038/s41439-019-0079-1

Narrowing down the region responsible for 1q23.3q24.1 microdeletion by identifying the smallest deletion

Hum Genome Var. 2019 Oct 18:6:47. doi: 10.1038/s41439-019-0079-1. eCollection 2019.

Authors

Takao Hoshina^#¹, Toshiyuki Seto^#^{1

2}, Taro Shimono³, Hiroaki Sakamoto⁴, Torayuki Okuyama⁵, Takashi Hamazaki¹, Toshiyuki Yamamoto^{6

7}

Affiliations

¹ 1Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan.
² 2Department of Medical Genetics, Osaka City University Graduate School of Medicine, Osaka, Japan.
³ 3Department of Radiology, Osaka City University Graduate School of Medicine, Osaka, Japan.
⁴ 4Department of Neurosurgery, Osaka City University Graduate School of Medicine, Osaka, Japan.
⁵ 5Department of Clinical Laboratory Medicine/Center for Lysosomal Storage Diseases, National Center for Child Health and Development, Tokyo, Japan.
⁶ 6Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.
⁷ 7Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

^# Contributed equally.

Abstract

Interstitial deletions of 1q23.3q24.1 are rare. Here, chromosomal microarray testing identified a de novo microdeletion of arr[GRCh37]1q23.3q24.1(164816055_165696996) × 1 in a patient with moderate developmental delay, hearing loss, cryptorchidism, and other distinctive features. The clinical features were common to those previously reported in patients with overlapping deletions. The patient's deletion size was 881 kb-the smallest yet reported. This therefore narrowed down the deletion responsible for the common clinical features. The deleted region included seven genes; deletion of LMX1A, RXRG, and ALDH9A1 may have caused our patient's neurodevelopmental delay.

Keywords: Genetics; Medical research.