Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion

Tetsuya Okazaki; Tatsuya Kawaguchi; Yusuke Saiki; Chisako Aoki; Noriko Kasagi; Kaori Adachi; Ken Saida; Naomichi Matsumoto; Eiji Nanba; Yoshihiro Maegaki

doi:10.1038/s41439-022-00194-w

Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion

Hum Genome Var. 2022 May 17;9(1):14. doi: 10.1038/s41439-022-00194-w.

Authors

Tetsuya Okazaki¹, Tatsuya Kawaguchi², Yusuke Saiki², Chisako Aoki³, Noriko Kasagi^{3

4}, Kaori Adachi^{3

5}, Ken Saida⁶, Naomichi Matsumoto⁶, Eiji Nanba^{3

7}, Yoshihiro Maegaki^{3

2}

Affiliations

¹ Division of Clinical Genetics, Tottori University Hospital, Yonago, Japan. t-okazaki@tottori-u.ac.jp.
² Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan.
³ Division of Clinical Genetics, Tottori University Hospital, Yonago, Japan.
⁴ Department of Fundamental Nursing, School of Health Science, Tottori University Faculty of Medicine, Yonago, Japan.
⁵ Research Initiative Center, Organization for Research Initiative and Promotion, Tottori University, Yonago, Japan.
⁶ Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
⁷ Research Strategy Division, Organization for Research Initiative and Promotion, Tottori University, Yonago, Japan.

Abstract

There is only one report of patients with developmental delay due to a 6q16.1 deletion that does not contain the SIM1 gene. A 3-year-old female showed strabismus, cleft soft palate, hypotonia at birth, and global developmental delay. Exome sequencing detected a de novo 6q16.1 deletion (chr6: 99282717-100062596) (hg19). The following genes were included in this region: POU3F2, FBXL4, FAXC, COQ3, PNISR, USP45, TSTD3, CCNC, and PRDM13.