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Novel MBTPS2 missense mutation causes a keratosis follicularis spinulosa decalvans phenotype: mutation update and review of the literature

  • Published:2016-09-23 Issue:7 Volume:41 Page:757-760
  • ISSN:0307-6938
  • Container-title:Clinical and Experimental Dermatology
  • language:en
  • Short-container-title:Clin Exp Dermatol

Author:

Zhang J.1,Wang Y.1,Cheng R.1,Ni C.1,Liang J.1,Li M.1,Yao Z.1

Affiliation:

1. Department of Dermatology; Xinhua Hospital; Shanghai Jiaotong University School of Medicine; Shanghai China

Funder

Industry Foundation of Ministry of Health of China

PhD Programs Foundation of Ministry of Education of China

Natural Science Foundation of Shanghai Jiaotong University School of Medicine

Shanghai Jiaotong University School of Medicine

Publisher

Wiley

Subject

Dermatology

Reference10 articles.

1. Keratosis follicularis spinulosa decalvans is caused by mutations in MBTPS2;Aten;Hum Mutat,2010

2. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome;Mégarbané;Orphanet J Rare Dis,2011

3. IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response;Oeffner;Am J Hum Genet,2009

4. MBTPS2 mutation causes BRESEK/BRESHECK syndrome;Naiki;Am J Med Genet A,2012

5. Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2;Bornholdt;Hum Mutat,2013

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1. Acquired Disorders of Hair;Rook's Textbook of Dermatology;2024-03-19

2. A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2;Revista Paulista de Pediatria;2023

3. Cicatricial Alopecia;European Handbook of Dermatological Treatments;2023

4. Keratosis follicularis spinulosa decalvans in a woman with XY karyotype;International Journal of Dermatology;2022-12-02

5. Ocular findings and genomics of X-linked recessive disorders: A review;Indian Journal of Ophthalmology;2022
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