Download PDF
J Pediatr Genet
DOI: 10.1055/s-0041-1740458
Case-Based Review

SWI/SNF-Related SMARCA2 Gene Mutation Associated with Nicolaides–Baraitser's Syndrome: Follow-up Study

Radharamadevi Akella 
1   Department of Pediatric Genetics, Rainbow Children's Hospital, Hyderabad, India
› Author Affiliations
› Further Information
    Permissions and Reprints

Abstract

Nicolaides–Baraitser's syndrome is a rare, dominantly inherited well-delineated syndrome caused by mutations in the SMARCA2 gene which is located on the small arm of chromosome 9. In this study, a de novo missense variant, which was identified in a 3-year-old boy by whole exome sequencing is reported. The de novo heterozygous V1198M missense variant in SMARCA2 gene in exon 25 is novel. Identifying the condition is crucial for the long-term management and family counseling. Follow-up over 4 years revealed improvements in overall performance.

Keywords

Nicolaides–Baraitser's syndrome - SMARCA2 gene - SWI/SNF - chromatin


Publication History

Received: 16 June 2021

Accepted: 02 November 2021

Article published online:
06 January 2022

© 2022. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

  • References

  • 1 Nicolaides P, Baraitser M. An unusual syndrome with mental retardation and sparse hair. Clin Dysmorphol 1993; 2 (03) 232-236
    CrossrefPubMedGoogle Scholar
  • 2 Sousa SB, Abdul-Rahman OA, Bottani A. et al. Nicolaides-Baraitser syndrome: delineation of the phenotype. Am J Med Genet A 2009; 149A (08) 1628-1640
    CrossrefPubMedGoogle Scholar
  • 3 Van Houdt JK, Nowakowska BA, Sousa SB. et al. Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet 2012; 44 (04) 445-449 , S1
    CrossrefPubMedGoogle Scholar
  • 4 Wolff D, Endele S, Azzarello-Burri S. et al. In-frame deletion and missense mutations of the C-terminal helicase domain of SMARCA2 in three patients with Nicolaides- Baraitser syndrome. Mol Syndromol 2012; 2 (06) 237-244
    CrossrefPubMedGoogle Scholar
  • 5 Keen A, Majid I. Nicolaides–Baraitser syndrome. Indian J Paediatr Dermatol 2015; 16 (03) 182-185
    CrossrefPubMedGoogle Scholar
  • 6 Mari F, Marozza A, Mencarelli MA. et al. Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. Brain Dev 2015; 37 (05) 527-536
    CrossrefPubMedGoogle Scholar
  • 7 Chater-Diehl E, Ejaz R, Cytrynbaum C. et al. New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome. BMC Med Genomics 2019; 12 (01) 105
    CrossrefPubMedGoogle Scholar
  • 8 Aref-Eshghi E, Bend EG, Hood RL. et al. BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes. Nat Commun 2018; 9 (01) 4885
    CrossrefPubMedGoogle Scholar
  • 9 Ejaz R, Babul-Hirji R, Chitayat D. The evolving features of Nicolaides–Baraitser syndrome – a clinical report of a 20-year follow-up. Clin Case Rep 2016; 4 (04) 351-355
    CrossrefPubMedGoogle Scholar