Medicine and Health Sciences Commons^™

Homozygous Frame Shift Mutation In Ecm1 Gene In Two Siblings With Lipoid Proteinosis., Azam J. Samdani, Abid Azhar, Syed M. Shahid, Syeda N. . Nawab, Rozeena Shaikh, Shah A. Qader, Qaisar Mansoor, Bahram K. Khoso, Muhammad Ismail

Department of Medicine

Background: The extracellular matrix protein 1 (ECM1) is a glycoprotein, expressed in skin and other tissues. Loss-of-function mutation in ECM1 causes a rare autosomal recessive disorder called lipoid proteinosis. Lipoid proteinosis is presented by varying degrees of skin scars, beaded papules along the eyelid margins, variable signs of hoarseness of voice and respiratory disorders. More than 250 cases of this disorder have been described in the literature, but occurrence of lipoid proteinosis in siblings is very rare. This study was designed to investigate the possible mutation causing lipoid proteinosis in a Pakistani family and to elaborate the scope of possible …

Molecular Studies Of Ichthyosis Vulgaris In Pakistani Families., Azam J. Samdani, Naghma Naz, Nuzhat Ahmed

Department of Medicine

Objective: To target and amplify a 1.5 kb FLG gene fragment known to carry R501X mutation responsible for causing ichthyosis vulgaris.

Study Design: A case series.

Place and Duration of Study: Centre for Molecular Genetics, University of Karachi and Dermatology Department, Jinnah Postgraduate Medical Centre (JPMC), Karachi, from October 2007 to December 2008.

Methodology: Clinically examined seven ichthyosis vulgaris families were included in this study. The 1.5 kb FLG gene fragment was located in the genomic DNA of both the affected (patients) and unaffected (normal, controls) members of the families by PCR amplification using known primers FilF3 and RPTIP6.

Results: …