Abstract：
:Ichthyosis Follicularis, Atrichia, and Photophobia (IFAP) is a severe rare genetic disorder caused by mutations in the gene encoding the Membrane-Bound Transcription Factor Peptidase, Site 2 (MBTPS2). Olmsted syndrome is another rare genetic disease with overlapping clinical features caused by mutations in the gene encoding the Transient Receptor Potential Cation Channel, subfamily V (TRPV3). Mutations in MBTPS2 have been recently reported in Olmsted syndrome, underscoring the overlap and the confusion in separating Olmsted from IFAP syndrome. We studied a Lebanese family with IFAP syndrome both, clinically and molecularly, and investigated whether there is a cross relation between TRPV3 and MBTPS2. We identified a recurrent mutation designated p.F475S in MBTPS2 in the affected individuals. This mutation was not found in 100 control individuals from the same population. We determined that TRPV3 regulatory region is a target for MBTPS2. In addition, there was an increased cell death in the cells transfected with the mutant versus the wild-type MBTPS2. In conclusion, we identified a direct regulatory effect of MBTPS2 on TRPV3 which can partially contribute to the overlapping clinical features of IFAP and Olmsted syndromes under a common signaling pathway.
journal_name
Arch Dermatol Resjournal_title
Archives of dermatological researchauthors
Nemer G,Safi R,Kreidieh F,Usta J,Bergqvist C,Ballout F,Btadini W,Hamzeh N,Abbas O,Kibbi AG,Shimomura Y,Kurban Mdoi
10.1007/s00403-017-1762-zsubject
Has Abstractpub_date
2017-10-01 00:00:00pages
637-643issue
8eissn
0340-3696issn
1432-069Xpii
10.1007/s00403-017-1762-zjournal_volume
309pub_type
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