How to Cite this Article: Schönewolf-Greulich B, Ronan A, Ravn K, Baekgaard P, Lodahl M, Nielsen K, Rendtorff ND, Tranebjaerg L, Brøndum-Nielsen K, Tümer Z. 2011. Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region. Am J Med Genet Part A 155: 2964–2969.
Article first published online: 3 NOV 2011
Copyright © 2011 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 12, pages 2964–2969, December 2011
How to Cite
Schönewolf-Greulich, B., Ronan, A., Ravn, K., Baekgaard, P., Lodahl, M., Nielsen, K., Rendtorff, N. D., Tranebjaerg, L., Brøndum-Nielsen, K. and Tümer, Z. (2011), Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region. Am. J. Med. Genet., 155: 2964–2969. doi: 10.1002/ajmg.a.34302
Conflict of interests: none.
Bitten Schönewolf-Greulich and Anne Ronan contributed equally to this work.
- Issue published online: 21 NOV 2011
- Article first published online: 3 NOV 2011
- Manuscript Accepted: 17 AUG 2011
- Manuscript Received: 23 FEB 2011
- sensorineural hearing loss;
- speech delay, TBX4, TBX2
Microdeletion of the 17q23.2 region has very recently been suggested as a new emerging syndrome based on the finding of 8 cases with common phenotypes including mild-to-moderate developmental delay, heart defects, microcephaly, postnatal growth retardation, and hand, foot, and limb abnormalities. In this report, we describe two new 17q23.2 deletion patients with mild intellectual disability and sensorineural hearing loss. They both had submicroscopic deletions smaller than the common deleted region for the 8 previously described 17q23.2 microdeletion cases. TBX4 was previously suggested as the responsible gene for the heart or limb defects observed in 17q23.2 deletion patients, but the present cases do not have these features despite deletion of this gene. The finding of sensorineural hearing loss in 5 of the 10 cases, including the present cases, with a microdeletion at17q23.2, strongly suggests the presence of a candidate gene for hearing loss within this region. We screened 41 patients with profound sensorineural hearing loss for mutations of TBX2 and detected no mutations. © 2011 Wiley Periodicals, Inc.