A review of 18p deletions. (6th August 2015)
- Record Type:
- Journal Article
- Title:
- A review of 18p deletions. (6th August 2015)
- Main Title:
- A review of 18p deletions
- Authors:
- Hasi‐Zogaj, Minire
Sebold, Courtney
Heard, Patricia
Carter, Erika
Soileau, Bridgette
Hill, Annice
Rupert, David
Perry, Brian
Atkinson, Sidney
O'Donnell, Louise
Gelfond, Jon
Lancaster, Jack
Fox, Peter T.
Hale, Daniel E.
Cody, Jannine D.
Cody, Jannine DeMars
Battaglia, Agatino
Hale, Daniel Esten - Abstract:
- <abstract abstract-type="main" xml:lang="en"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmgc31445-sec-0001" sec-type="section"> <p>Since 18p‐ was first described in 1963, much progress has been made in our understanding of this classic deletion condition. We have been able to establish a fairly complete picture of the phenotype when the deletion breakpoint occurs at the centromere, and we are working to establish the phenotypic effects when each gene on 18p is hemizygous. Our aim is to provide genotype‐specific anticipatory guidance and recommendations to families with an 18p‐ diagnosis. In addition, establishing the molecular underpinnings of the condition will potentially suggest targets for molecular treatments. Thus, the next step is to establish the precise effects of specific gene deletions. As we look forward to deepening our understanding of 18p‐, our focus will continue to be on the establishment of robust genotype–phenotype correlations and the penetrance of these phenotypes. We will continue to follow our 18p‐ cohort closely as they age to determine the presence or absence of some of these diagnoses, including spinocerebellar ataxia (SCA), facioscapulohumeral muscular dystrophy (FSHD), and dystonia. We will also continue to refine the critical regions for other phenotypes as we enroll additional (hopefully informative) participants into the research study and as the mechanisms of the genes in these regions are elucidated. Mouse models will<abstract abstract-type="main" xml:lang="en"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmgc31445-sec-0001" sec-type="section"> <p>Since 18p‐ was first described in 1963, much progress has been made in our understanding of this classic deletion condition. We have been able to establish a fairly complete picture of the phenotype when the deletion breakpoint occurs at the centromere, and we are working to establish the phenotypic effects when each gene on 18p is hemizygous. Our aim is to provide genotype‐specific anticipatory guidance and recommendations to families with an 18p‐ diagnosis. In addition, establishing the molecular underpinnings of the condition will potentially suggest targets for molecular treatments. Thus, the next step is to establish the precise effects of specific gene deletions. As we look forward to deepening our understanding of 18p‐, our focus will continue to be on the establishment of robust genotype–phenotype correlations and the penetrance of these phenotypes. We will continue to follow our 18p‐ cohort closely as they age to determine the presence or absence of some of these diagnoses, including spinocerebellar ataxia (SCA), facioscapulohumeral muscular dystrophy (FSHD), and dystonia. We will also continue to refine the critical regions for other phenotypes as we enroll additional (hopefully informative) participants into the research study and as the mechanisms of the genes in these regions are elucidated. Mouse models will also be developed to further our understanding of the effects of hemizygosity as well as to serve as models for treatment development. © 2015 Wiley Periodicals, Inc.</p> </sec> </abstract> … (more)
- Is Part Of:
- American journal of medical genetics. Volume 169:Number 3(2015:Jul.)
- Journal:
- American journal of medical genetics
- Issue:
- Volume 169:Number 3(2015:Jul.)
- Issue Display:
- Volume 169, Issue 3 (2015)
- Year:
- 2015
- Volume:
- 169
- Issue:
- 3
- Issue Sort Value:
- 2015-0169-0003-0000
- Page Start:
- 251
- Page End:
- 264
- Publication Date:
- 2015-08-06
- Subjects:
- Medical genetics -- Periodicals
616.04205 - Journal URLs:
- http://onlinelibrary.wiley.com/ ↗
- DOI:
- 10.1002/ajmg.c.31445 ↗
- Languages:
- English
- ISSNs:
- 1552-4868
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - 0827.940000
British Library DSC - BLDSS-3PM
British Library HMNTS - ELD Digital store - Ingest File:
- 4374.xml