A review of 18p deletions

Minire Hasi-Zogaj, Courtney Sebold, Patricia Heard, Erika Carter, Bridgette Soileau, Annice Hill, David Rupert, Brian Perry, Sidney Atkinson, Louise O'Donnell, Jon Gelfond, Jack Lancaster, Peter T. Fox, Daniel E. Hale, Jannine D. Cody

Research output: Contribution to journalArticle

23 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)251-264
Number of pages14
JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Volume169
Issue number3
DOIs
StatePublished - Sep 1 2015

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Phenotype
Facioscapulohumeral Muscular Dystrophy
Spinocerebellar Ataxias
Penetrance
Dystonia
Centromere
Gene Deletion
Genetic Association Studies
Genes
Genotype
Research

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Hasi-Zogaj, M., Sebold, C., Heard, P., Carter, E., Soileau, B., Hill, A., ... Cody, J. D. (2015). A review of 18p deletions. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 169(3), 251-264. https://doi.org/10.1002/ajmg.c.31445
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. / A review of 18p deletions. In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 2015 ; Vol. 169, No. 3. pp. 251-264.
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Hasi-Zogaj, M, Sebold, C, Heard, P, Carter, E, Soileau, B, Hill, A, Rupert, D, Perry, B, Atkinson, S, O'Donnell, L, Gelfond, J, Lancaster, J, Fox, PT, Hale, DE & Cody, JD 2015, 'A review of 18p deletions', American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, vol. 169, no. 3, pp. 251-264. https://doi.org/10.1002/ajmg.c.31445

A review of 18p deletions. / 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.

In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, Vol. 169, No. 3, 01.09.2015, p. 251-264.

Research output: Contribution to journalArticle

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AU - Sebold, Courtney

AU - Heard, Patricia

AU - Carter, Erika

AU - Soileau, Bridgette

AU - Hill, Annice

AU - Rupert, David

AU - Perry, Brian

AU - Atkinson, Sidney

AU - O'Donnell, Louise

AU - Gelfond, Jon

AU - Lancaster, Jack

AU - Fox, Peter T.

AU - Hale, Daniel E.

AU - Cody, Jannine D.

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Hasi-Zogaj M, Sebold C, Heard P, Carter E, Soileau B, Hill A et al. A review of 18p deletions. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 2015 Sep 1;169(3):251-264. https://doi.org/10.1002/ajmg.c.31445