Clinical manifestations of the first patient when he suffered DDS syndrome.

<p>Generalized purpuric rash could be found on the face and trunk, and the lesions on the right leg were aggravated.</p

Clinical manifestations of the first patient when he was admitted in our clinics for the first time.

<p>Erythema and papules could be observed on the right leg with clear margin.</p

Clinical manifestations of the second patient when she was admitted for the first time.

<p>Intensive popular exanthematous rash was found on her trunk.</p

Genome-wide linkage results.

<p>Genomic position is shown on the horizontal axis; HLOD(parametric Model)/LOD(non-parametric model) score on the left vertical axis.; Information content on the right vertical axis. Red line indicates results under a recessive model; blue line indicates a dominant model, dashed line indicates nonparametric analysis, and green line indicates information content.</p

Family structures for 23 leprosy families.

<p>Family structures for 23 leprosy families.</p

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