title: Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region.
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.
authors: Genetic Counselling Clinic, Kennedy Center, Glostrup, Denmark.
authors: Bitten
authors: B
authors: Schönewolf-Greulich
authors: Anne
authors: A
authors: Ronan
authors: Kristine
authors: K
authors: Ravn
authors: Peter
authors: P
authors: Baekgaard
authors: Marianne
authors: M
authors: Lodahl
authors: Kate
authors: K
authors: Nielsen
authors: Nanna D
authors: ND
authors: Rendtorff
authors: Lisbeth
authors: L
authors: Tranebjaerg
authors: Karen
authors: K
authors: Brøndum-Nielsen
authors: Zeynep
authors: Z
authors: Tümer
mesh_terms: D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17; D055028:Comparative Genomic Hybridization; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D020641:Polymorphism, Single Nucleotide; D020825:T-Box Domain Proteins / Q000235:genetics
chemical_list: C097348:T-Box Domain Protein 2; D020825:T-Box Domain Proteins