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Beckwith–Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?
- Source :
- Journal of Human Genetics. 61:765-769
- Publication Year :
- 2016
- Publisher :
- Springer Science and Business Media LLC, 2016.
-
Abstract
- Although recent studies have often revealed the presence of multilocus imprinting disturbance (MLID) at differentially methylated regions (DMRs) in patients with imprinting disorders (IDs), most patients exhibit clinical features of the original ID only. Here we report a Japanese female patient with Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib. Molecular studies revealed marked methylation defects (MDs) at the Kv-DMR and the GNAS-DMRs and variable MDs at four additional DMRs, in the absence of a mutation in ZFP57, NLRP2, NLRP7, KHDC3L and NLRP5. It is likely that the MDs at the Kv-DMR and the GNAS-DMRs were sufficient to cause clinically recognizable IDs, whereas the remaining MDs were insufficient to result in clinical consequences or took place at DMRs with no disease-causing imprinted gene(s). The development of MLID and the two IDs of this patient may be due to a mutation in a hitherto unknown gene for MLID, or to a reduced amount of DNA methyltransferase-1 (DNMT1) available for the methylation maintenance of DMRs because of the consumption of DNMT1 by the maintenance of X-inactivation. In support of the latter possibility, such co-existence of two IDs has primarily been identified in female patients, and MLID has predominantly been identified as loss of methylations.
- Subjects :
- 0301 basic medicine
medicine.medical_specialty
Beckwith-Wiedemann Syndrome
Quantitative Trait Loci
Beckwith–Wiedemann syndrome
030105 genetics & heredity
Biology
Polymorphism, Single Nucleotide
Genomic Imprinting
03 medical and health sciences
Sex Factors
Genetics
medicine
Humans
Imprinting (psychology)
Child
Genetics (clinical)
Pseudohypoparathyroidism
Comparative Genomic Hybridization
Facies
DNA Methylation
medicine.disease
Phenotype
030104 developmental biology
Differentially methylated regions
Statistical genetics
DNA methylation
Medical genetics
CpG Islands
Female
Genomic imprinting
Subjects
Details
- ISSN :
- 1435232X and 14345161
- Volume :
- 61
- Database :
- OpenAIRE
- Journal :
- Journal of Human Genetics
- Accession number :
- edsair.doi.dedup.....9010c682c94df437f40e383fa6bc2d6c