Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies-Reference-Cited by-同舟云学术

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Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies

Published:2023-12 Issue:3 Volume:112 Page:166-169
ISSN:0923-1811
Container-title:Journal of Dermatological Science
language:en
Short-container-title:Journal of Dermatological Science

Author:

Caengprasath Natarin,Nizon Mathilde,Panchaprateep Ratchathorn,Cogne Benjamin,Cuinat Silvestre,Auburt Hélène,Jonca Nathalie,Porntaveetus Thantrira,Shotelersuk Vorasuk

Publisher

Elsevier BV

Subject

Dermatology,Molecular Biology,Biochemistry

Reference10 articles.

1. 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

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

3. IFAP syndrome with severe cutaneous, neurologic and skeletal manifestations due to a novel MBTPS2 mutation in a Polish patient;Pietrzak;Eur. J. Dermatol.,2012

4. Hodgkin lymphoma in a patient with IFAP syndrome: a case report and review of literature;Shakibazad;J. Pedia Hematol. Oncol.,2018

5. Limbal stem cell dysfunction in ichthyosis follicularis, alopecia, and photophobia syndrome;Basilious;Cornea,2020

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