Document Detail


A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9.
MedLine Citation:
PMID:  15952214     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The ICF syndrome (immunodeficiency, centromeric instability, facial anomalies) (OMIM#242860) is a rare autosomal, recessively inherited disorder. Another rare condition, ischiadic hypoplasia, renal dysgenesis, immunodeficiency, and polydactyly (IHRDIP, OMIM#243340), displays features that resemble those of the ICF syndrome. Due to the overlapping symptoms in both syndromes, we asked whether a shared underlying molecular defect exists. Two patients, each with the clinical characteristics of one of these syndromes, were subjected to conventional cytogenetic analysis and the determination of the methylation state of satellite II DNA. We found that both displayed the two hallmark features of the ICF syndrome, namely hypomethylation and centromeric instability of chromosomes 1 and 16. Therefore, we reclassified the patient previously diagnosed with the IHRDIP syndrome as an ICF patient. Since the majority of ICF patients are carriers of mutations in the methytransferase gene DNMT3B, we determined the sequence of its coding, splice site, and putative promoter region and analyzed its transcripts in both patients, without detecting any alterations. Similarly, the coding region of two DNMT3B-interacting proteins, SUMO-1 and UBC9, did not reveal mutations. With this study, the published number of patients that lack mutations in DNMT3B coding region increases to almost 40% of all ICF patients reported. It is, therefore, implied that a significant subset of ICF patients will have a yet unknown, alternative alteration, which may include the involvement of DNMT3B-interacting factors or aberrations of an independent pathway.
Authors:
Barbara Kloeckener-Gruissem; David R Betts; Andreas Zankl; Wolfgang Berger; Tayfun G?ng?r
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Publication Detail:
Type:  Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  136     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2005 Jul 
Date Detail:
Created Date:  2005-06-29     Completed Date:  2005-08-10     Revised Date:  2010-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  31-7     Citation Subset:  IM    
Copyright Information:
Copyright (c) 2005 Wiley-Liss, Inc.
Affiliation:
Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Switzerland. kloeckener@medgen.unizh.ch
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*,  pathology
Adult
Centromere / genetics
Child, Preschool
Chromosomal Instability*
Chromosome Aberrations*
Chromosomes, Human, Pair 1 / genetics
Chromosomes, Human, Pair 16 / genetics
Consanguinity
Craniofacial Abnormalities / pathology
Cytogenetic Analysis
DNA / chemistry,  genetics
DNA (Cytosine-5-)-Methyltransferase / genetics
DNA Mutational Analysis
Diagnosis, Differential
Family Health
Female
Humans
Immunologic Deficiency Syndromes / pathology*
Ischium / abnormalities
Kidney / abnormalities
Male
Mutation
Pedigree
Polydactyly / pathology
SUMO-1 Protein / genetics
Syndrome
Ubiquitin-Conjugating Enzymes / genetics
Chemical
Reg. No./Substance:
0/SUMO-1 Protein; 9007-49-2/DNA; EC 2.1.1.37/DNA (Cytosine-5-)-Methyltransferase; EC 2.1.1.37/DNA methyltransferase 3B; EC 6.3.2.19/Ubiquitin-Conjugating Enzymes; EC 6.3.2.19/ubiquitin-conjugating enzyme UBC9
Comments/Corrections
Erratum In:
Am J Med Genet A. 2005 Oct 1;138(2):195

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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