European journal of human genetics : EJHG, 2012-01, Vol.20 (1), p.119-121
2012
Details
- Autor(en) / Beteiligte
- Titel
- No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome
- Ist Teil von
- European journal of human genetics : EJHG, 2012-01, Vol.20 (1), p.119-121
- Ort / Verlag
- Basingstoke: Nature Publishing Group
- Erscheinungsjahr
- 2012
- Link zum Volltext
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome, which, in 50-60% of sporadic cases, is caused by hypomethylation of KCNQ1OT1 differentially methylated region (DMR) at chromosome 11p15.5. The underlying defect of this hypomethylation is largely unknown. Recently, recessive mutations of the ZFP57 gene were reported in patients with transient neonatal diabetes mellitus type 1, showing hypomethylation at multiple imprinted loci, including KCNQ1OT1 DMR in some. The aim of our study was to determine whether ZFP57 alterations were a genetic cause of the hypomethylation at KCNQ1OT1 DMR in patients with BWS. We sequenced ZFP57 in 27 BWS probands and in 23 available mothers to test for a maternal effect. We identified three novel, presumably benign sequence variants in ZFP57; thus, we found no evidence for ZFP57 alterations as a major cause in sporadic BWS cases.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1018-4813eISSN: 1476-5438DOI: 10.1038/ejhg.2011.140Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3234508
- Format
- –
- Schlagworte
- Beckwith-Wiedemann syndrome, Beckwith-Wiedemann Syndrome - diagnosis, Beckwith-Wiedemann Syndrome - genetics, Beckwith-Wiedemann Syndrome - pathology, Benign, Biological and medical sciences, Chromosome 11, Chromosomes, Chromosomes, Human, Pair 11 - genetics, Classical genetics, quantitative genetics, hybrids, Deoxyribonucleic acid, Diabetes, Diabetes mellitus, Diabetes mellitus (insulin dependent), DNA, DNA Methylation, DNA Mutational Analysis, DNA-Binding Proteins - genetics, Epigenetics, Female, Females, Fundamental and applied biological sciences. Psychology, General aspects. Genetic counseling, Genes, Genetic Testing, Genetics, Genetics of eukaryotes. Biological and molecular evolution, Genomes, Human, Humans, Inheritance Patterns, KCNQ1OT1 protein, Male, Medical genetics, Medical sciences, Molecular and cellular biology, Mothers, Mutation, Neonates, Potassium channels (voltage-gated), Repressor Proteins, Reproductive technologies, Short Report, Transcription Factors - genetics