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A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome.

Publication ,  Journal Article
Sullivan, JA; Stong, N; Baugh, EH; McDonald, MT; Takeuchi, A; Shashi, V
Published in: Am J Med Genet A
August 2020

Schinzel-Giedion syndrome (SGS; OMIM 269150) is an ultra-rare genetic disorder associated with a distinctive facial gestalt, congenital malformations, severe intellectual disability, and a progressive neurological course. The prognosis for SGS is poor, with survival beyond the first decade rare. Germline, de novo heterozygous variants in the SETBP1 gene cause SGS with the pathogenic variants associated with the SGS phenotype missense and confined to exon 4 of the gene, clustered in a four amino acid (12 bp) hotspot in the SKI homologous region of the SETBP1 protein. We report a patient with a de novo I871S variant within the SKI homologous region, which has been associated with the severe phenotype previously; but our patient has fewer features of SGS and a milder course. This is the first report of a forme-fruste phenotype in a patient with a pathogenic variant within the SGS hotspot on the SETBP1 gene and it highlights the importance of considering atypical clinical presentations in the context of severe ultra-rare genetic disorders.

Duke Scholars

Published In

Am J Med Genet A

DOI

EISSN

1552-4833

Publication Date

August 2020

Volume

182

Issue

8

Start / End Page

1947 / 1951

Location

United States

Related Subject Headings

  • Phenotype
  • Nuclear Proteins
  • Nails, Malformed
  • Mutation
  • Male
  • Intellectual Disability
  • Infant, Newborn
  • Infant
  • Humans
  • Heterozygote
 

Citation

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ICMJE
MLA
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Sullivan, J. A., Stong, N., Baugh, E. H., McDonald, M. T., Takeuchi, A., & Shashi, V. (2020). A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome. Am J Med Genet A, 182(8), 1947–1951. https://doi.org/10.1002/ajmg.a.61630
Sullivan, Jennifer A., Nicholas Stong, Evan H. Baugh, Marie T. McDonald, Akihito Takeuchi, and Vandana Shashi. “A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome.Am J Med Genet A 182, no. 8 (August 2020): 1947–51. https://doi.org/10.1002/ajmg.a.61630.
Sullivan JA, Stong N, Baugh EH, McDonald MT, Takeuchi A, Shashi V. A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome. Am J Med Genet A. 2020 Aug;182(8):1947–51.
Sullivan, Jennifer A., et al. “A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome.Am J Med Genet A, vol. 182, no. 8, Aug. 2020, pp. 1947–51. Pubmed, doi:10.1002/ajmg.a.61630.
Sullivan JA, Stong N, Baugh EH, McDonald MT, Takeuchi A, Shashi V. A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome. Am J Med Genet A. 2020 Aug;182(8):1947–1951.
Journal cover image

Published In

Am J Med Genet A

DOI

EISSN

1552-4833

Publication Date

August 2020

Volume

182

Issue

8

Start / End Page

1947 / 1951

Location

United States

Related Subject Headings

  • Phenotype
  • Nuclear Proteins
  • Nails, Malformed
  • Mutation
  • Male
  • Intellectual Disability
  • Infant, Newborn
  • Infant
  • Humans
  • Heterozygote