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Duplication of 17q11.2 and Features of Albright Hereditary Osteodystrophy Secondary to Methylation Defects within the GNAS Cluster : Coincidence or Causal?
Joint Authors
Daly, E.
Betts, D. R.
Bullman, H.
Crolla, John A.
Lynch, S. A.
Conroy, J.
Cody, D.
White, M.
Lever, M.
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-01-14
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
White, M.& Conroy, J.& Bullman, H.& Lever, M.& Daly, E.& Betts, D. R.…[et al.]. 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،Vol. 2013, no. 2013, pp.1-3.
https://search.emarefa.net/detail/BIM-496950
Modern Language Association (MLA)
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 No. 2013 (2013), pp.1-3.
https://search.emarefa.net/detail/BIM-496950
American Medical Association (AMA)
White, M.& Conroy, J.& Bullman, H.& Lever, M.& Daly, E.& Betts, D. R.…[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. 2013. Vol. 2013, no. 2013, pp.1-3.
https://search.emarefa.net/detail/BIM-496950
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-496950