DNASE1L3 Mutations in Hypocomplementemic Urticarial Vasculitis Syndrome
Objective Hypocomplementemic urticarial vasculitis syndrome (HUVS) is characterized by recurrent urticaria along with dermal vasculitis, arthritis, and glomerulonephritis. Systemic lupus erythematosus (SLE) develops in >50% of patients with HUVS, although the pathogenesis is unknown. The aim of t...
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| Published in | Arthritis & rheumatology (Hoboken, N.J.) Vol. 65; no. 8; pp. 2183 - 2189 |
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| Main Authors | , , , , , , |
| Format | Journal Article |
| Language | English |
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United States
Wiley Subscription Services, Inc
01.08.2013
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| Abstract | Objective
Hypocomplementemic urticarial vasculitis syndrome (HUVS) is characterized by recurrent urticaria along with dermal vasculitis, arthritis, and glomerulonephritis. Systemic lupus erythematosus (SLE) develops in >50% of patients with HUVS, although the pathogenesis is unknown. The aim of this study was to identify the causative DNA mutations in 2 families with autosomal‐recessive HUVS, in order to reveal the pathogenesis and facilitate the laboratory diagnosis.
Methods
Autozygosity mapping was combined with whole‐exome sequencing.
Results
In a family with 3 affected children, we identified a homozygous frameshift mutation, c.289_290delAC, in DNASE1L3. We subsequently identified another homozygous DNASE1L3 mutation leading to exon skipping, c.320+4delAGTA, in an unrelated family. The detected mutations led to loss of function, via either nonsense‐mediated messenger RNA decay or abolished endonuclease activity, as demonstrated by a plasmid nicking assay.
Conclusion
These results show that HUVS is caused by mutations in DNASE1L3, encoding an endonuclease that previously has been associated with SLE. |
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| AbstractList | OBJECTIVEHypocomplementemic urticarial vasculitis syndrome (HUVS) is characterized by recurrent urticaria along with dermal vasculitis, arthritis, and glomerulonephritis. Systemic lupus erythematosus (SLE) develops in >50% of patients with HUVS, although the pathogenesis is unknown. The aim of this study was to identify the causative DNA mutations in 2 families with autosomal-recessive HUVS, in order to reveal the pathogenesis and facilitate the laboratory diagnosis.METHODSAutozygosity mapping was combined with whole-exome sequencing.RESULTSIn a family with 3 affected children, we identified a homozygous frameshift mutation, c.289_290delAC, in DNASE1L3. We subsequently identified another homozygous DNASE1L3 mutation leading to exon skipping, c.320+4delAGTA, in an unrelated family. The detected mutations led to loss of function, via either nonsense-mediated messenger RNA decay or abolished endonuclease activity, as demonstrated by a plasmid nicking assay.CONCLUSIONThese results show that HUVS is caused by mutations in DNASE1L3, encoding an endonuclease that previously has been associated with SLE. Objective Hypocomplementemic urticarial vasculitis syndrome (HUVS) is characterized by recurrent urticaria along with dermal vasculitis, arthritis, and glomerulonephritis. Systemic lupus erythematosus (SLE) develops in >50% of patients with HUVS, although the pathogenesis is unknown. The aim of this study was to identify the causative DNA mutations in 2 families with autosomal-recessive HUVS, in order to reveal the pathogenesis and facilitate the laboratory diagnosis. Methods Autozygosity mapping was combined with whole-exome sequencing. Results In a family with 3 affected children, we identified a homozygous frameshift mutation, c.289_290delAC, in DNASE1L3. We subsequently identified another homozygous DNASE1L3 mutation leading to exon skipping, c.320+4delAGTA, in an unrelated family. The detected mutations led to loss of function, via either nonsense-mediated messenger RNA decay or abolished endonuclease activity, as demonstrated by a plasmid nicking assay. Conclusion These results show that HUVS is caused by mutations in DNASE1L3, encoding an endonuclease that previously has been associated with SLE [PUBLICATION ABSTRACT]. Objective Hypocomplementemic urticarial vasculitis syndrome (HUVS) is characterized by recurrent urticaria along with dermal vasculitis, arthritis, and glomerulonephritis. Systemic lupus erythematosus (SLE) develops in >50% of patients with HUVS, although the pathogenesis is unknown. The aim of this study was to identify the causative DNA mutations in 2 families with autosomal‐recessive HUVS, in order to reveal the pathogenesis and facilitate the laboratory diagnosis. Methods Autozygosity mapping was combined with whole‐exome sequencing. Results In a family with 3 affected children, we identified a homozygous frameshift mutation, c.289_290delAC, in DNASE1L3. We subsequently identified another homozygous DNASE1L3 mutation leading to exon skipping, c.320+4delAGTA, in an unrelated family. The detected mutations led to loss of function, via either nonsense‐mediated messenger RNA decay or abolished endonuclease activity, as demonstrated by a plasmid nicking assay. Conclusion These results show that HUVS is caused by mutations in DNASE1L3, encoding an endonuclease that previously has been associated with SLE. Hypocomplementemic urticarial vasculitis syndrome (HUVS) is characterized by recurrent urticaria along with dermal vasculitis, arthritis, and glomerulonephritis. Systemic lupus erythematosus (SLE) develops in >50% of patients with HUVS, although the pathogenesis is unknown. The aim of this study was to identify the causative DNA mutations in 2 families with autosomal-recessive HUVS, in order to reveal the pathogenesis and facilitate the laboratory diagnosis. Autozygosity mapping was combined with whole-exome sequencing. In a family with 3 affected children, we identified a homozygous frameshift mutation, c.289_290delAC, in DNASE1L3. We subsequently identified another homozygous DNASE1L3 mutation leading to exon skipping, c.320+4delAGTA, in an unrelated family. The detected mutations led to loss of function, via either nonsense-mediated messenger RNA decay or abolished endonuclease activity, as demonstrated by a plasmid nicking assay. These results show that HUVS is caused by mutations in DNASE1L3, encoding an endonuclease that previously has been associated with SLE. |
| Author | Foster, Joseph Kasapcopur, Ozgur Özçakar, Z. Birsin Yalçınkaya, Fatoş Diaz‐Horta, Oscar Tekin, Mustafa Fan, Yao‐Shan |
| Author_xml | – sequence: 1 givenname: Z. Birsin surname: Özçakar fullname: Özçakar, Z. Birsin organization: Ankara University School of Medicine – sequence: 2 givenname: Joseph surname: Foster fullname: Foster, Joseph organization: University of Miami, Miller School of Medicine – sequence: 3 givenname: Oscar surname: Diaz‐Horta fullname: Diaz‐Horta, Oscar organization: University of Miami, Miller School of Medicine – sequence: 4 givenname: Ozgur surname: Kasapcopur fullname: Kasapcopur, Ozgur organization: Istanbul University Cerrahpasa School of Medicine – sequence: 5 givenname: Yao‐Shan surname: Fan fullname: Fan, Yao‐Shan organization: University of Miami, Miller School of Medicine – sequence: 6 givenname: Fatoş surname: Yalçınkaya fullname: Yalçınkaya, Fatoş organization: Ankara University School of Medicine – sequence: 7 givenname: Mustafa surname: Tekin fullname: Tekin, Mustafa organization: University of Miami, Miller School of Medicine |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/23666765$$D View this record in MEDLINE/PubMed |
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Hypocomplementemic urticarial vasculitis syndrome (HUVS) is characterized by recurrent urticaria along with dermal vasculitis, arthritis, and... Hypocomplementemic urticarial vasculitis syndrome (HUVS) is characterized by recurrent urticaria along with dermal vasculitis, arthritis, and... Objective Hypocomplementemic urticarial vasculitis syndrome (HUVS) is characterized by recurrent urticaria along with dermal vasculitis, arthritis, and... OBJECTIVEHypocomplementemic urticarial vasculitis syndrome (HUVS) is characterized by recurrent urticaria along with dermal vasculitis, arthritis, and... |
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| SubjectTerms | Age of Onset Autoimmune diseases Child Child, Preschool Complement System Proteins - deficiency DNA Mutational Analysis Endodeoxyribonucleases - genetics Female Genes, Recessive Humans Immune System Diseases - diagnosis Immune System Diseases - genetics Immune System Diseases - immunology Male Mutation Pathogenesis Urticaria - diagnosis Urticaria - genetics Urticaria - immunology Vasculitis - diagnosis Vasculitis - genetics Vasculitis - immunology |
| Title | DNASE1L3 Mutations in Hypocomplementemic Urticarial Vasculitis Syndrome |
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