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White M, Conroy J, Bullman H, et al. Duplication of 17q11.2 and Features of Albright Hereditary Osteodystrophy Secondary to Methylation Defects within the GNAS Cluster: Coincidence or Causal?. Case Rep Genet. 2013;2013:764152doi: 10.1155/2013/764152.
White, M., Conroy, J., Bullman, H., Lever, M., Daly, E., Betts, D. R., Cody, D., Crolla, J. A., & Lynch, S. A. (2013). Duplication of 17q11.2 and Features of Albright Hereditary Osteodystrophy Secondary to Methylation Defects within the GNAS Cluster: Coincidence or Causal?. Case reports in genetics, 2013764152. https://doi.org/10.1155/2013/764152
White, M, et al. "Duplication of 17q11.2 and Features of Albright Hereditary Osteodystrophy Secondary to Methylation Defects within the GNAS Cluster: Coincidence or Causal?." Case reports in genetics vol. 2013 (2013): 764152. doi: https://doi.org/10.1155/2013/764152
White M, Conroy J, Bullman H, Lever M, Daly E, Betts DR, Cody D, Crolla JA, Lynch SA. Duplication of 17q11.2 and Features of Albright Hereditary Osteodystrophy Secondary to Methylation Defects within the GNAS Cluster: Coincidence or Causal?. Case Rep Genet. 2013;2013:764152. doi: 10.1155/2013/764152. Epub 2013 Jan 14. PMID: 23424688; PMCID: PMC3574658.
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Case Rep Genet. 2013;2013:764152. doi: 10.1155/2013/764152. Epub 2013 Jan 14.

Duplication of 17q11.2 and Features of Albright Hereditary Osteodystrophy Secondary to Methylation Defects within the GNAS Cluster: Coincidence or Causal?.

Case reports in genetics

M White, J Conroy, H Bullman, M Lever, E Daly, D R Betts, D Cody, John A Crolla, S A Lynch

Affiliations

  1. Department of Endocrinology, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland.

PMID: 23424688 PMCID: PMC3574658 DOI: 10.1155/2013/764152

Abstract

We report a case of Albright hereditary osteodystrophy (AHO) in a three-year-old girl with a microduplication at 17q11.2. The child developed obesity within the first 6 months of life. A diagnosis of Albright was made at age 2 years when biochemical evidence of parathyroid resistance was found. No mutations were identified in guanine nucleotide-binding protein G (s) subunit alpha (GNAS1). Subsequent investigations revealed methylation disturbance at GNAS1A, neuroendocrine secretory protein antisense (NESPAS) and neuroendocrine secretory protein 55 (NESP55) confirming a diagnosis of pseudohypothyroidism type 1B. A deletion of NESP55 and uniparental disomy chromosome 20 were excluded which suggested that the features of AHO arose through a purely epigenetic mechanism. Further investigation revealed a de novo microduplication at 17q11.2 encompassing the neurofibromatosis type 1 (NF1) gene. The combination of two rare de novo events in the same child raises the possibility that duplication of a gene within the 17q11.2 region may have triggered abnormal methylation in the GNAS cluster region on chromosome 20.

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