2. Academic Validation
  3. Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib

Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib

  • Nat Genet. 2005 Jan;37(1):25-7. doi: 10.1038/ng1487.
Murat Bastepe 1,  Leopold F Fröhlich,  Agnès Linglart,  Hilal S Abu-Zahra,  Katsuyoshi Tojo,  Leanne M Ward,  Harald Jüppner
Affiliations

Affiliation

  • 1 Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA. bastepe@helix.mgh.harvard.edu
PMID: 15592469 DOI: 10.1038/ng1487
Abstract

Epigenetic defects in the imprinted GNAS cluster are associated with pseudohypoparathyroidism type Ib. In two kindreds with this disorder, we now report deletions that remove the differentially methylated region encompassing exon NESP55 and exons 3 and 4 of the antisense transcript. When inherited from a female, either deletion abolishes all maternal GNAS imprints and derepresses maternally silenced transcripts, suggesting that the deleted region contains a cis-acting element that controls imprinting of the maternal GNAS allele.

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