Title: Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1
Authors: Thienpont, Bernard
Dimitriadou, Eftychia
Theodoropoulos, Katerina
Breckpot, Jeroen
Fryssira, Helen
Kitsiou-Tzeli, Sophia
Tzoufi, Meropi
Vermeesch, Joris
Syrrou, Maria
Devriendt, Koenraad # ×
Issue Date: 2009
Publisher: Elsevier
Series Title: European journal of medical genetics vol:52 issue:6 pages:393-7
Abstract: In 1991, a large family was described with an autosomal dominant inheritance of otological and branchial manifestations which was termed branchio-otic syndrome type 2 (BOS2). This trait was mapped by linkage analysis in this family to a region of 23-31 Mb on chromosome 1q25.1q32.1. In the present report we describe the clinical features of two patients with a deletion in this region: one patient has a deletion but no otological or branchial manifestations, the other patient manifests mild conductive hearing loss resulting from bilaterally malformed middle ear ossicles, as well as a preauricular pit. Mapping of the deletion breakpoints allowed to delineate the region involved in BOS2 to a 5.25 Mb region containing 27 protein-coding genes. A detailed medical history of both patients is provided and they are compared with the literature on other detected interstitial deletions of 1q25q32. These findings will aid in the identification of the genetic cause underlying BOS2.
ISSN: 1769-7212
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Genetics of Human Development
Clinical Genetics Section (-)
× corresponding author
# (joint) last author

Files in This Item:
File Description Status SizeFormat
Thienpont.pdfpublisher's version pdf Published 166KbAdobe PDFView/Open Request a copy

These files are only available to some KU Leuven Association staff members


All items in Lirias are protected by copyright, with all rights reserved.

© Web of science