PMID: 11907499Mar 22, 2002Paper

Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families

Journal of the American Academy of Dermatology
Aoi NakanoEli Sprecher

Abstract

Junctional epidermolysis bullosa (JEB) is a group of inherited blistering diseases characterized by epidermal-dermal separation resulting from mutations that affect the function of critical components of the basement membrane zone. This group of autosomal recessive diseases is especially prevalent in regions where consanguinity is common, such as the Middle East. However, the clinical and genetic epidemiology of JEB in this region remains largely unexplored. The aim of the present study was to assess a series of consanguineous JEB families originating from the Middle East. We identified 7 families referred to us between 1998 and 1999 and originating from the United Arab Emirates, Saudi Arabia, Sudan, Yemen, and Israel. Histologic, immunofluorescence, and electron microscopy studies were performed to direct the subsequent molecular analysis. DNA obtained from all family members was amplified by means of polymerase chain reaction and analyzed by conformation-sensitive gel electrophoresis with subsequent direct sequencing. In 6 families presenting with the clinical and histologic features distinctive for JEB, mutations in genes encoding 1 of the 3 subunit polypeptides of laminin-5 were identified. Two families each had mutations i...Continue Reading

Citations

Oct 29, 2008·Journal of Pediatric Gastroenterology and Nutrition·Camilla SalvestriniSimon H Murch
Mar 4, 2020·Journal of the European Academy of Dermatology and Venereology : JEADV·R MittwollenJ Hammersen
Aug 23, 2005·Community Genetics·L I Al-GazaliY M Abdulrazzaq
Oct 19, 2012·Cell Adhesion & Migration·Dimitra KiritsiLeena Bruckner-Tuderman
Aug 8, 2019·Indian Journal of Dermatology, Venereology and Leprology·Fatimah Mohammad Budair
Nov 23, 2019·Npj Regenerative Medicine·T E HallP D Currie
Aug 4, 2012·Human Molecular Genetics·Tamar E SztalPeter D Currie
Jan 20, 2011·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Tamar SztalThomas E Hall
Oct 24, 2020·Journal of the European Academy of Dermatology and Venereology : JEADV·R BaardmanM C Bolling
Aug 1, 2020·Anais Brasileiros De Dermatologia·Luiza Monteavaro MariathAna Elisa Kiszewski
Aug 29, 2003·Biochemical and Biophysical Research Communications·Maria ScaturroDaniele Castiglia
Nov 25, 2003·The Journal of Investigative Dermatology·Xianmin MengLeena Pulkkinen
Sep 18, 2004·The Journal of Investigative Dermatology·Patrizia PosteraroDaniele Castiglia
Sep 27, 2006·European Journal of Cell Biology·Holm SchneiderFrederic Pacho
Mar 26, 2010·The Journal of Investigative Dermatology·Jason A BubierJohn P Sundberg

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