Genotype–Phenotype Correlations Emerging from the Identification of Missense Mutations in MBTPS2 (pages 587–594)
Dorothea Bornholdt, T. Prescott Atkinson, Bakar Bouadjar, Benoit Catteau, Helen Cox, Deepthi De Silva, Judith Fischer, Chalukya N. Gunasekera, Smaïl Hadj-Rabia, Rudolf Happle, Muriel Holder-Espinasse, Elke Kaminski, Arne König, André Mégarbané, Hala Mégarbané, Ulrike Neidel, Frank Oeffner, Vinzenz Oji, Amy Theos, Heiko Traupe, Anders Vahlquist, Bregje W. van Bon, Marie Virtanen and Karl-Heinz Grzeschik
Article first published online: 8 MAR 2013 | DOI: 10.1002/humu.22275
Missense mutations affecting membrane-bound transcription factor protease site 2 (MBTPS2) cluster in transmembrane domains. Amino-acid exchanges near the active site are more detrimental to functionality of the enzyme and, clinically, associated with more severe phenotypes. In male patients, a genotype-phenotype correlation begins to emerge, linking the site of the mutation in MBTPS2 with the clinical outcome described as IFAP syndrome with or without BRESHECK syndrome, keratosis follicularis spinulosa decalvans, X-linked, or the X-linked form of Olmsted Syndrome.