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Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1 |
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| Authors: | Bernard Thienpont Eftychia Dimitriadou Katerina Theodoropoulos Jeroen Breckpot Helen Fryssira Sophia Kitsiou-Tzeli Meropi Tzoufi Joris R. Vermeesch Maria Syrrou Koen Devriendt |
| Affiliation: | 1. Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA;2. ARUP Laboratories, Salt Lake City, UT, USA;3. University of Utah, Salt Lake City, UT, USA;4. Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, USA;5. Genomics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA;6. Lineagen, Salt Lake City, UT, USA;7. Children’s Hospital Los Angeles, Los Angeles, CA, USA;8. Texas Children’s Cancer Center, Baylor College of Medicine Houston, TX, USA;9. Ancestry DNA, Lehi, UT, USA;10. Invitae, San Francisco, CA, USA;11. Stanford University School of Medicine, Stanford, CA, USA;12. American College of Medical Genetics and Genomics, Bethesda, MD, USA |
| 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. |
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