Blau syndrome associated with nucleotide-binding oligomerization domain containing 2 mutation in a baby from Malaysia
Blau syndrome (BS) is a very rare autosomal dominant juvenile inflammatory disorder caused by mutation in nucleotide-binding oligomerization domain containing 2 (NOD2). Usually, dermatitis is the first symptom that appears in the 1styear of life. About 220 BS cases with confirmed NOD2 mutation have...
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Wolters Kluwer Medknow Publications
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doaj-3d839b0f64d9498a8c869686bdd237c92020-11-24T21:50:34ZengWolters Kluwer Medknow PublicationsIndian Journal of Dermatology0019-51541998-36112019-01-0164540040310.4103/ijd.IJD_44_18Blau syndrome associated with nucleotide-binding oligomerization domain containing 2 mutation in a baby from MalaysiaKin Fon LeongReiko SatoGlenda Guek Khim OhUttam SuranaZacharias Aloysius Dwi PramonoBlau syndrome (BS) is a very rare autosomal dominant juvenile inflammatory disorder caused by mutation in nucleotide-binding oligomerization domain containing 2 (NOD2). Usually, dermatitis is the first symptom that appears in the 1styear of life. About 220 BS cases with confirmed NOD2 mutation have been reported. However, the rarity and lack of awareness of the disease, especially in the regions where genetic tests are very limited, often result in late diagnosis and misdiagnosis. Here, we report a de novo BS case from Malaysia, which may be the first report from southeast Asia. PCR and DNA sequencing of peripheral blood mononuclear cells were performed to screen the entire coding region of NOD2 gene. A heterozygous c.1000C>T transition in exon 4, p. R334W, of the NOD2 gene was identified in the patient. This report further reaffirms the ubiquitousness of the disease and recurrency of p. R334W mutation.http://www.e-ijd.org/article.asp?issn=0019-5154;year=2019;volume=64;issue=5;spage=400;epage=403;aulast=LeongBlau syndromeMalaysianucleotide-binding oligomerization domain containing 2southeast Asia |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Kin Fon Leong Reiko Sato Glenda Guek Khim Oh Uttam Surana Zacharias Aloysius Dwi Pramono |
spellingShingle |
Kin Fon Leong Reiko Sato Glenda Guek Khim Oh Uttam Surana Zacharias Aloysius Dwi Pramono Blau syndrome associated with nucleotide-binding oligomerization domain containing 2 mutation in a baby from Malaysia Indian Journal of Dermatology Blau syndrome Malaysia nucleotide-binding oligomerization domain containing 2 southeast Asia |
author_facet |
Kin Fon Leong Reiko Sato Glenda Guek Khim Oh Uttam Surana Zacharias Aloysius Dwi Pramono |
author_sort |
Kin Fon Leong |
title |
Blau syndrome associated with nucleotide-binding oligomerization domain containing 2 mutation in a baby from Malaysia |
title_short |
Blau syndrome associated with nucleotide-binding oligomerization domain containing 2 mutation in a baby from Malaysia |
title_full |
Blau syndrome associated with nucleotide-binding oligomerization domain containing 2 mutation in a baby from Malaysia |
title_fullStr |
Blau syndrome associated with nucleotide-binding oligomerization domain containing 2 mutation in a baby from Malaysia |
title_full_unstemmed |
Blau syndrome associated with nucleotide-binding oligomerization domain containing 2 mutation in a baby from Malaysia |
title_sort |
blau syndrome associated with nucleotide-binding oligomerization domain containing 2 mutation in a baby from malaysia |
publisher |
Wolters Kluwer Medknow Publications |
series |
Indian Journal of Dermatology |
issn |
0019-5154 1998-3611 |
publishDate |
2019-01-01 |
description |
Blau syndrome (BS) is a very rare autosomal dominant juvenile inflammatory disorder caused by mutation in nucleotide-binding oligomerization domain containing 2 (NOD2). Usually, dermatitis is the first symptom that appears in the 1styear of life. About 220 BS cases with confirmed NOD2 mutation have been reported. However, the rarity and lack of awareness of the disease, especially in the regions where genetic tests are very limited, often result in late diagnosis and misdiagnosis. Here, we report a de novo BS case from Malaysia, which may be the first report from southeast Asia. PCR and DNA sequencing of peripheral blood mononuclear cells were performed to screen the entire coding region of NOD2 gene. A heterozygous c.1000C>T transition in exon 4, p. R334W, of the NOD2 gene was identified in the patient. This report further reaffirms the ubiquitousness of the disease and recurrency of p. R334W mutation. |
topic |
Blau syndrome Malaysia nucleotide-binding oligomerization domain containing 2 southeast Asia |
url |
http://www.e-ijd.org/article.asp?issn=0019-5154;year=2019;volume=64;issue=5;spage=400;epage=403;aulast=Leong |
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