4 research outputs found
Analysis of <i>POFUT1</i> Gene Mutation in a Chinese Family with Dowling-Degos Disease
<div><p>Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by reticular pigmented anomaly mainly affecting flexures. Though <i>KRT5</i> has been identified to be the causal gene of DDD, the heterogeneity of this disease was displayed: for example, <i>POFUT1</i> and <i>POGLUT1</i> were recently identified and confirmed to be additional pathogenic genes of DDD. To identify other DDD causative genes, we performed genome-wide linkage and exome sequencing analyses in a multiplex Chinese DDD family, in which the <i>KRT5</i> mutation was absent. Only a novel 1-bp deletion (c.246+5delG) in <i>POFUT1</i> was found. No other novel mutation or this deletion was detected in <i>POFUT1</i> in a second DDD family and a sporadic DDD case by Sanger Sequencing. The result shows the genetic-heterogeneity and complexity of DDD and will contribute to the further understanding of DDD genotype/phenotype correlations and to the pathogenesis of this disease.</p></div
The 1-bp deletion in <i>POFUT1</i>.
<p>The Sanger sequencing traces around the position of 1-bp deletion c.246+5delG in one affected and one unaffected individuals of Family I.</p
Family trees of Family I and Family II.
<p>Shown are the pedigree of family I and family II with DDD. The arrow denotes the proband; “Δ” denotes the individuals used in the linkage analysis; “★” denotes the individuals used in exome sequencing analysis, “⧫” denotes the individuals that were Sanger sequenced for <i>POFUT1</i>.</p
Clinical manifestations of DDD.
<p>Reticular hyperpigmentation on the skin of neck and abdomen.</p