Human Genome Variation (May 2022)

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
https://doi.org/10.1038/s41439-022-00194-w
Journal volume & issue
Vol. 9, no. 1
pp. 1 – 3

Abstract

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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.