A novelEDARADD5′-splice site mutation resulting in activation of two alternate cryptic 5′-splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia

2016 ◽  
Vol 170 (6) ◽  
pp. 1639-1641 ◽  
Author(s):  
Ajay K. Chaudhary ◽  
Katta M. Girisha ◽  
Murali D. Bashyam
Keyword(s):  
Splice Site ◽  
Autosomal Recessive ◽  
Ectodermal Dysplasia ◽  
Splice Site Mutation ◽  
Splice Sites ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Site Mutation

A rare cause of fever of unknown origin: hypohidrotic ectodermal dysplasia with a splice site mutation

2018 ◽  
Vol 70 (5) ◽  
Author(s):  
Melahat M. Oguz ◽  
Meltem Akcaboy ◽  
Asuman Gurkan ◽  
Esma Altinel Acoglu ◽  
Pelin Zorlu ◽  
...  
Keyword(s):  
Splice Site ◽  
Fever Of Unknown Origin ◽  
Ectodermal Dysplasia ◽  
Splice Site Mutation ◽  
Unknown Origin ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Site Mutation

Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review

2018 ◽  
Vol 45 (5) ◽  
pp. 613-617 ◽  
Author(s):  
Yukari Mizukami ◽  
Ryota Hayashi ◽  
Daisuke Tsuruta ◽  
Yutaka Shimomura ◽  
Koji Sugawara
Keyword(s):  
Case Report ◽  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Woolly Hair

A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia

2004 ◽  
Vol 116 (1-2) ◽  
pp. 114-120 ◽  
Author(s):  
Samuel Canizales-Quinteros ◽  
Carlos A. Aguilar-Salinas ◽  
Adriana Huertas-Vázquez ◽  
María L. Ordóñez-Sánchez ◽  
Maribel Rodríguez-Torres ◽  
...  
Keyword(s):  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Autosomal Recessive Hypercholesterolemia

Autosomal Recessive Liver Phosphorylase Kinase Deficiency Caused by a Novel Splice-Site Mutation in the Gene Encoding the Liver Gamma Subunit (PHKG2)

1997 ◽  
Vol 236 (3) ◽  
pp. 544-548 ◽  
Author(s):  
Ellen A.C.M. van Beurden ◽  
Michelle de Graaf ◽  
Udo Wendel ◽  
Richard Gitzelmann ◽  
Ruud Berger ◽  
...  
Keyword(s):  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Site Mutation ◽  
Phosphorylase Kinase ◽  
Site Mutation ◽  
Gene Encoding ◽  
Gamma Subunit

Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10

2010 ◽  
Vol 162 (6) ◽  
pp. 1384-1387 ◽  
Author(s):  
C. Covaciu ◽  
M. Castori ◽  
N. De Luca ◽  
P. Ghirri ◽  
A. Nannipieri ◽  
...  
Keyword(s):  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Site Mutation ◽  
Donor Splice Site ◽  
Site Mutation ◽  
Donor Splice ◽  
Epidermolytic Ichthyosis

Decreased Expression In NF-κB Essential Modulator Due to a Novel Splice-Site Mutation Causes Ectodermal Dysplasia with Immunodeficiency

Blood ◽  
2010 ◽  
Vol 116 (21) ◽  
pp. 1732-1732
Author(s):  
Shuhei Karakawa ◽  
Satoshi Okada ◽  
Miyuki Tsumura ◽  
Yoko Mizoguchi ◽  
Norioki Ohno ◽  
...  
Keyword(s):  
Splice Site ◽  
Transcriptional Activity ◽  
Ectodermal Dysplasia ◽  
Splice Site Mutation ◽  
The Other ◽  
Dominant Negative Effect ◽  
Site Mutation ◽  
Streptococcus Pneumonia ◽  
Cell Counts ◽  
Ifn Γ

Abstract Abstract 1732 <Introduction> X-linked ectodermal dysplasia with immunodeficiency (XL-EDA-ID) is caused by hypomorphic mutations in the nuclear factor κB (NF-κB) essential modulator (NEMO) gene, also called IKBKG, and these mutations impair but do not abolish NF-κB signaling, resulting in distinct clinical and immunologic phenotypes. We presented the patient with XL-EDA-ID showing a novel splice-site mutation. In this report we precisely study the involvement of this mutation in the molecular pathogenesis of XL-EDA-ID. <Patient> The patient is 12 years old Japanese boy. He had conical-shaped teeth and hypodontia. He had suffered from recurrent bacterial infections and these pathogenic bacteria were mostly streptococcus pneumonia. The laboratory examination revealed that the number of white blood cell counts, the classification of lymphocytes, and the serum immunoglobulin levels were within normal range. However the specific antibodies against measles and streptococcus pneumonia were negative in spite of these infections. <Results> We identified a novel hemizygous mutation, 769-1 G>C, at the splicing acceptor site of exon 7 in the IKBKG gene. In order to clarify the effect of this mutation on mRNA, we performed a cloning analysis. Although various abnormal spliced NEMO (mutant NEMO) mRNAs were observed, a small amount of wild-type NEMO (WT NEMO) mRNA was also identified. The rate of WT and mutant was variable on the time of blood collection. Further we performed FACS and immunoblot analysis in order to evaluate the effect of this mutation at protein level. Two major bands which were presumed to be derived from WT and one mutant were detected in immunoblots using EBV transfected B cells, however the expression levels of these bands were markedly decreased compared to those of the healthy controls. The NEMO protein expression was confirmed to be decreased in various lineages of leukocytes. We generated WT and two representative mutant NEMO constructs and measured their NF-κB transcriptional activity using reporter assay. One mutant NEMO abolished NF-κB transcriptional activity, the other showed weak activity. However, neither of mutant NENO showed a dominant-negative effect against WT NEMO activity. CD14+ cells from the patient produced a lower level of TNF-α in response to IFN-γ stimulation, on the other hand CD3+ cells produced very little IFN-γ in response to IL-12. CD4+ T-cell proliferation was impaired in response to measles and mumps, but not rubella. <Conclusion> The hemizygous 769-1 G>C mutation was shown to cause the decreased expression of WT NEMO protein, resulting in the decrease in NF-κB activation and the development of XL-EDA-ID. Disclosures: No relevant conflicts of interest to declare.

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