MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans

Clinical and Experimental Dermatology

Volumn 37, Issue 6, 2012, Pages 631-634

  Fong, K ^a   Wedgeworth, E K ^b   Lai Cheong, J E ^a   Tosi, I ^a   Mellerio, J E ^b   Powell, A M ^b   McGrath, J A ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; GENOMIC DNA; MEMBRANE BOUND TRANSCRIPTION FACTOR PEPTIDASE SITE 2 PROTEIN; PEPTIDASE; SERINE; UNCLASSIFIED DRUG;

ALOPECIA; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL SKIN DISEASE; DARIER DISEASE; DNA SEQUENCE; FACE ERYTHEMA; FEMALE; GENE MUTATION; HUMAN; HYPERKERATOSIS; KERATOSIS FOLLICULARIS SPINULOSA; MALE; MUTATIONAL ANALYSIS; ONSET AGE; PEDIGREE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; X CHROMOSOME LINKED DISORDER;

FEMALE; GREAT BRITAIN; HUMANS; ICHTHYOSIS; MALE; METALLOENDOPEPTIDASES; MUTATION, MISSENSE; PEDIGREE;

EID: 84864153198     PISSN: 03076938     EISSN: 13652230     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2011.04288.x     Document Type: Article

References (10)

1. Siemens HW,. Keratosis follicularis spinulosa decalvans. Arch Dermatol Syph 1926; 151: 384-7.
2. Lacarrubba F, Dall'Oglio F, Rossi A, et al. Familial keratosis follicularis spinulosa decalvans associated with woolly hair. Int J Dermatol 2007; 46: 840-3.
3. Castori M, Covaciu C, Paradisi M, et al. Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans. Eur J Med Genet 2009; 52: 53-8.
4. Aten E, Brasz LC, Bornholdt D, et al. Keratosis follicularis spinulosa decalvans is caused by mutations in MBTPS2. Hum Mutat 2010; 31: 1125-33.
5. Oeffner F, Fischer G, Happle R, et al. IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response. Am J Hum Genet 2009; 84: 459-67.
6. Sakai J, Duncan EA, Rawson RB, et al. Sterol-regulated release of SREBP-2 from cell membranes requires two sequential cleavages, one within a transmembrane segment. Cell 1996; 85: 1037-46.
7. Megarbane H, Megarbane A,. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome. Orphanet J Rare Dis 2011; 6: 29.
8. Ding YG, Wang JY, Qiao JJ, et al. A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome in a Chinese family. Br J Dermatol 2010; 163: 886-9.
9. Baden HP, Byers HR,. Clinical findings, cutaneous pathology, and response to therapy in 21 patients with keratosis pilaris atrophicans. Arch Dermatol 1994; 130: 469-75.
10. Kunte C, Loeser C, Wolff H,. Folliculitis spinulosa decalvans: successful therapy with dapsone. J Am Acad Dermatol 1998; 39: 891-3.