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

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

Tetsuya Okazaki  1 , Tatsuya Kawaguchi  2 , Yusuke Saiki  2 , Chisako Aoki  3 , Noriko Kasagi  3   4 , Kaori Adachi  3   5 , Ken Saida  6 , Naomichi Matsumoto  6 , Eiji Nanba  3   7 , Yoshihiro Maegaki  3   2
Affiliations

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

Tetsuya Okazaki et al. Hum Genome Var. .

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.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1. Graphic representation of copy number variation analysis.
A Graphic representation of copy number variation analysis using an eXome Hidden Markov Model (XHMM). This image shows the deletion in 6q16.1 of this patient (arrow). However, neither parent showed this deletion. B Graphic representation of copy number variation analysis using a modified Nord’s method. This image shows the deletion in 6q16.1 (arrow).
See this image and copyright information in PMC

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