I İ

 

IFAP sendromu

Kalıtsal - XLR

Gelişme geriliği

Mikrosefali

Alopesi

Kaş ve kirpik yokluğu

Kornea ülserleri/opasiteleri

Keratit

Fotofobi

İşitme sorunları

Yarık damak

Unilateral toraks hipoplazisi

Kosta anomalileri

Herniler

Hirschsprung hastalığı

İnmemiş testis

Displastik/kistik böbrekler

Vertebra anomalileri

Skolyoz

Deride ektodermal displazi bulguları

Psikomotor gelişme ve zeka geriliği

Beyinde malformasyonlar

Oligohidramnios

 

• 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. American Journal of Human Genetics, 84: 459-467, 2009

• Oeffner F, Martinez F, Schaffer J, et al. Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome. (Letter) Experimental Dermatology, 20: 447-456, 2011

• Naiki M, Mizuno S, Yamada K, et al. MBTPS2 mutation causes BRESEK/BRESHECK syndrome. American Journal of Medical Genetics, 158A: 97-102, 2012

• Wang HJ, Tang ZL, Lin ZM, et al. Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient. Clinical & Experimental Dermatology, 39: 158-161, 2014

 

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