De novo mutation of emopamil binding protein (EBP) gene in a girl with Conradi-Hünermann-Happle syndrome

Ana Soler-Cardona; Oliver Brandau; Franco Laccone; Adrian Tanew; Sonja Radakovic

doi:10.1002/ccr3.2213

De novo mutation of emopamil binding protein (EBP) gene in a girl with Conradi-Hünermann-Happle syndrome

Clin Case Rep. 2019 Jun 28;7(8):1522-1525. doi: 10.1002/ccr3.2213. eCollection 2019 Aug.

Authors

Ana Soler-Cardona¹, Oliver Brandau^{2

3}, Franco Laccone², Adrian Tanew^{1

4}, Sonja Radakovic¹

Affiliations

¹ Department of Dermatology Medical University of Vienna Vienna Austria.
² Institute of Medical Genetics Medical University of Vienna Vienna Austria.
³ Center for Human Genetics Mannheim Mannheim Germany.
⁴ Private Dermatological Practice Vienna Austria.

Abstract

Conradi-Hünermann-Happle syndrome is a rare X-linked dominant syndrome affecting the skin, skeletal system, and eyes. Here, we report on a female patient with a de novo heterozygous missense mutation c.301C>T (p.Trp101Arg) of the EMP (emopamil binding protein) gene.

Keywords: alopecia; cataract; genodermatosis; pigmentary disorders.

Publication types

Case Reports