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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 Genotype–Phenotype Correlations Emerging from the Identification of Missense Mutations in MBTPS2 Human Mutation 34

Version of Record online: 8 MAR 2013 | DOI: 10.1002/humu.22275

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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.

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