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Genetic and phenotypic spectrum in the NONO-associated syndromic disorder.

Publication ,  Journal Article
Roessler, F; Beck, AE; Susie, B; Tobias, B; Begtrup, A; Biskup, S; Caluseriu, O; Delanty, N; Fröhlich, C; Greally, MT; Karnstedt, M; White, M ...
Published in: Am J Med Genet A
February 2023

The non-POU domain-containing octamer-binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X-linked syndromic disorder. Through our in-house diagnostics and subsequent matchmaking, we identified six unrelated male individuals with pathogenic or likely pathogenic NONO variants. For a detailed comparison, we reviewed all published characterizations of the NONO-associated disorder. The combined cohort consists of 16 live-born males showing developmental delay, corpus callosum anomalies, non-compaction cardiomyopathy and relative macrocephaly as leading symptoms. Seven prenatal literature cases were characterized by cardiac malformations. In this study, we extend the phenotypic spectrum through two more cases with epilepsy as well as two more cases with hematologic anomalies. By RNA expression analysis and structural modeling of a new in-frame splice deletion, we reinforce loss-of-function as the pathomechanism for the NONO-associated syndromic disorder.

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Published In

Am J Med Genet A

DOI

EISSN

1552-4833

Publication Date

February 2023

Volume

191

Issue

2

Start / End Page

469 / 478

Location

United States

Related Subject Headings

  • RNA-Binding Proteins
  • RNA
  • Male
  • Humans
  • Heart Defects, Congenital
  • Genes, X-Linked
  • DNA-Binding Proteins
  • Cardiomyopathies
  • 3202 Clinical sciences
  • 3105 Genetics
 

Citation

APA
Chicago
ICMJE
MLA
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Roessler, F., Beck, A. E., Susie, B., Tobias, B., Begtrup, A., Biskup, S., … Strehlow, V. (2023). Genetic and phenotypic spectrum in the NONO-associated syndromic disorder. Am J Med Genet A, 191(2), 469–478. https://doi.org/10.1002/ajmg.a.63044
Roessler, Franziska, Anita E. Beck, Ball Susie, Bartolomaeus Tobias, Amber Begtrup, Saskia Biskup, Oana Caluseriu, et al. “Genetic and phenotypic spectrum in the NONO-associated syndromic disorder.Am J Med Genet A 191, no. 2 (February 2023): 469–78. https://doi.org/10.1002/ajmg.a.63044.
Roessler F, Beck AE, Susie B, Tobias B, Begtrup A, Biskup S, et al. Genetic and phenotypic spectrum in the NONO-associated syndromic disorder. Am J Med Genet A. 2023 Feb;191(2):469–78.
Roessler, Franziska, et al. “Genetic and phenotypic spectrum in the NONO-associated syndromic disorder.Am J Med Genet A, vol. 191, no. 2, Feb. 2023, pp. 469–78. Pubmed, doi:10.1002/ajmg.a.63044.
Roessler F, Beck AE, Susie B, Tobias B, Begtrup A, Biskup S, Caluseriu O, Delanty N, Fröhlich C, Greally MT, Karnstedt M, Klöckner C, Kurtzberg J, Schubert S, Schulze M, Weidenbach M, Westphal DS, White M, Wolf CM, Zyskind J, Popp B, Strehlow V. Genetic and phenotypic spectrum in the NONO-associated syndromic disorder. Am J Med Genet A. 2023 Feb;191(2):469–478.
Journal cover image

Published In

Am J Med Genet A

DOI

EISSN

1552-4833

Publication Date

February 2023

Volume

191

Issue

2

Start / End Page

469 / 478

Location

United States

Related Subject Headings

  • RNA-Binding Proteins
  • RNA
  • Male
  • Humans
  • Heart Defects, Congenital
  • Genes, X-Linked
  • DNA-Binding Proteins
  • Cardiomyopathies
  • 3202 Clinical sciences
  • 3105 Genetics