Source: Annual Congress 2006 - Pneumonia and other invasive pulmonary infections in children
Disease area: Paediatric lung diseases, Respiratory infections

Abstract

An association between bronchiectasis caused by primary ciliary dyskinesia (PCD) and retinitis pigmentosa (RP) has previously been described in a seven-generation family with apparent X-linked inheritance (Krawczynski, M.R. et al. Pediatric Pulmonology 2004; 38: 88-89). A mutation in the RPGR gene on the X chromosome has been identified in a second family with this association (Moore, A. et el. J Med Genet 31 July 2005; 10.1136/jmg.2005.034868). We describe the first family in which an association between idiopathic bronchiectasis and RP is apparently inherited in an autosomal dominant fashion. We present a five-generation family with autosomal dominant RP (ADRP). Mutation analysis of the rhodopsin and RDS/peripherin gene coding regions (accounting for 35% of ADRP cases) in one affected individual show no mutation. Screening is continuing for a panel of common mutations associated with ADRP. To date three of the RP affected males and two RP affected females have been diagnosed with bronchiectasis, confirmed on high resolution CT scan. One 9-year old female has bronchiectasis, but no evidence of RP as yet, with a normal fundoscopy and electroretinogram. All other recognised causes of bronchiectasis have been excluded in the paediatric cases. Cilial beat frequency and electron microscopy on three of the affected individuals have shown non-specific secondary changes only. There is no history of deafness, and hearing tests on two affected adults are within the normal range. Linkage studies are now in progress to determine the site of the relevant mutation/s.

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Citations should be made in the following way:
A. C. Kelleher, M. J. Wright, D. A. Spencer (Newcastle Upon Tyne, United Kingdom). A new syndrome of bronchiectasis associated with retinitis pigmentosa inherited in an autosomal dominant fashion. Eur Respir J 2006; 28: Suppl. 50, 1783

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