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A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3

R G Ruf¹, J Berkman², M T F Wolf¹, P Nurnberg^3,4, M Gattas², E-M Ruf⁵, V Hyland⁶, J Kromberg², I Glass⁷, J Macmillan², E Otto¹, G Nurnberg³, B Lucke, H C Hennies, F Hildebrandt¹

¹ Departments of Pediatrics and Human Genetics, University of Michigan, Ann Arbor, USA
² Queensland Clinical Genetics Service, Royal Children’s Hospital, Brisbane, Queensland, Australia
³ Gene Mapping Centre and Department of Molecular Genetics, Max-Delbrueck Centre for Molecular Medicine, Berlin-Buch, Germany
⁴ Institute of Medical Genetics, Charité University Hospital, Humboldt University, Berlin, Germany
⁵ University Children’s Hospital, Freiburg, Germany
⁶ Molecular Genetics Laboratory, Queensland Health Pathology Service, Queensland, Australia
⁷ Departments of Pediatrics and Medicine, University of Washington School of Medicine, Seattle, USA

Correspondence to:
Correspondence to:
Dr F Hildebrandt, University of Michigan Health System, 8220C MSRB III, 1150 West Medical Center Drive, Ann Arbor, MI 48109, USA;
fhilde@umich.edu

Keywords: branchio-oto-renal syndrome (BOR); branchio-otic syndrome; BOS2; BOS3

The first 150 words of the full text of this article appear below.

Branchio-oto-renal syndrome (BOR, OMIM 113650) is an autosomal dominant disorder characterised by the association of hearing loss (HL), structural ear anomalies, branchial arch defects, and renal anomalies.¹ The prevalence approximates 1:40 000 in the general population, and has been reported in about 2% of deaf children.² Age of onset for deafness varies from childhood to early adulthood.³ The clinical expression of BOR exhibits wide intra- and interfamilial variability. In addition, reduced penetrance for BOR has been assumed.⁴ The major feature of BOR, which occurs in 93% of patients, is HL, which can be conductive, sensorineural, or mixed. Besides the classical ear, kidney, and branchial arch anomalies, different developmental manifestations of BOR in other organ systems have been described. Among these, dysfunction of the lacrimal duct system is a common association.^5–10 Thus, BOR represents a clinically and genetically heterogeneous disease complex that manifests predominantly during organogenesis. A gene locus for autosomal . . . [Full text of this article]

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