A de novo microdeletion in a patient with inner ear abnormalities suggests that the 10q26.13 region contains the responsible gene

Noriko Sangu; Nobuhiko Okamoto; Keiko Shimojima; Yumiko Ondo; Masanori Nishikawa; Toshiyuki Yamamoto

doi:10.1038/hgv.2016.8

A de novo microdeletion in a patient with inner ear abnormalities suggests that the 10q26.13 region contains the responsible gene

Hum Genome Var. 2016 May 19:3:16008. doi: 10.1038/hgv.2016.8. eCollection 2016.

Authors

Noriko Sangu¹, Nobuhiko Okamoto², Keiko Shimojima³, Yumiko Ondo³, Masanori Nishikawa⁴, Toshiyuki Yamamoto³

Affiliations

¹ Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan; Department of Oral and Maxillofacial Surgery, Tokyo Women's Medical University, Tokyo, Japan.
² Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health , Izumi, Japan.
³ Tokyo Women's Medical University Institute for Integrated Medical Sciences , Tokyo, Japan.
⁴ Department of Radiology, Osaka Medical Center and Research Institute for Maternal and Child Health , Izumi, Japan.

Abstract

Microdeletions in the 10q26.1 region are related to intellectual disability, growth delay, microcephaly, distinctive craniofacial features, cardiac defects, genital abnormalities and inner ear abnormalities. The genes responsible for inner ear abnormalities have been narrowed to fibroblast growth factor receptor 2 gene (FGFR2), H6 family homeobox 2 gene (HMX2) and H6 family homeobox 3 gene (HMX3). An additional patient with distinctive craniofacial features, congenital deafness and balance dysfunctions showed a de novo microdeletion of 10q26.11q26.13, indicating the existence of a gene responsible for inner ear abnormalities in this region.