Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region

Bitten Schönewolf-Greulich; Anne Ronan; Kristine Ravn; Peter Baekgaard; Marianne Lodahl; Kate Nielsen; Nanna D Rendtorff; Lisbeth Tranebjaerg; Karen Brøndum-Nielsen; Zeynep Tümer

doi:10.1002/ajmg.a.34302

Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region

Bitten Schönewolf-Greulich, Anne Ronan, Kristine Ravn, Peter Baekgaard, Marianne Lodahl, Kate Nielsen, Nanna D Rendtorff, Lisbeth Tranebjaerg, Karen Brøndum-Nielsen, Zeynep Tümer

Medical Genetics Program

4 Citations (Scopus)

Abstract

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.

Original language	English
Journal	American Journal of Medical Genetics. Part A
Volume	155A
Issue number	12
Pages (from-to)	2964-9
Number of pages	6
ISSN	1552-4825
DOIs	https://doi.org/10.1002/ajmg.a.34302
Publication status	Published - Dec 2011

Keywords

Child
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 17
Comparative Genomic Hybridization
Female
Hearing Loss, Sensorineural
Humans
Infant
Polymorphism, Single Nucleotide
T-Box Domain Proteins

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Schönewolf-Greulich, B., Ronan, A., Ravn, K., Baekgaard, P., Lodahl, M., Nielsen, K., Rendtorff, N. D., 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. American Journal of Medical Genetics. Part A, 155A(12), 2964-9. https://doi.org/10.1002/ajmg.a.34302

Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region. / Schönewolf-Greulich, Bitten; Ronan, Anne; Ravn, Kristine et al.

In: American Journal of Medical Genetics. Part A, Vol. 155A, No. 12, 12.2011, p. 2964-9.

Research output: Contribution to journal › Journal article › Research › peer-review

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', American Journal of Medical Genetics. Part A, vol. 155A, no. 12, pp. 2964-9. https://doi.org/10.1002/ajmg.a.34302

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abstract = "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.",

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AB - 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.

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Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region

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Keywords

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