ISSN: ISSN: 2157-7412
Hazel Ann Bugarin David
University of Santo Tomas Hospital, Philippines
Posters & Accepted Abstracts: J Genet Syndr Gene Ther
Kartagener syndrome is a genetic disease caused by defects of the structure and function of the cilia that leads to abnormal mucociliary clearance causing disease of the sinus and pulmonary regions. Kartagener syndrome is characterized by the triad of bronchiectasis, paranasal sinusitis and situs inversus totalis. The most common gene affected is DNAH5 which encodes ciliary dynein axonemal heavy chain. DNAH5 is linked to chromosome 5p which is the primary chromosome affected in Cri du chat syndrome. Here, we report a 7 month old Filipino female presenting with the common features of Cri du chat syndrome as well as situs inversus totalis, recurrent respiratory infections and bronchiectasis which point to a concomitant Kartagener syndrome. Kartagener syndrome can be caused by hemizygous DNAH5 mutation in combination with a 5p segmental deletion which can be attributed to Cri du chat syndrome on the opposite chromosome. The patient presented here had a partial deletion in chromosome 5p13-5p15.3 causing deletion of one allele of DNAH5 which resides on chromosome 5p15-p14. A biallelic mutation of DNAH5 must occur to manifest features of Kartagener syndrome. Immunoflourescent staining done showed complete absence of DNAH5 and the transmission electron microscopy of nasal cilia also confirmed the absence of the outer dynein arms; hence, we conclude that there was a mutation in the remaining allele of DNAH5.
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