PDF herunterladen
J Pediatr Genet 2022; 11(02): 162-164
DOI: 10.1055/s-0040-1716709
Case Report

Wiedemann–Steiner Syndrome: A Rare Differential Diagnosis of Neurodevelopmental Delay and Dysmorphic Features

Kursat Bora Carman
1   Department of Pediatric Neurology, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey
,
Emre Kaplan
1   Department of Pediatric Neurology, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey
,
Cefa Nil Aslan
1   Department of Pediatric Neurology, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey
,
Sinem Kocagil
2   Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey
,
Oguz Cilinigr
2   Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey
,
Coskun Yarar
1   Department of Pediatric Neurology, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey
› Institutsangaben
› Weitere Informationen
Auch verfügbar auf
    Lizenzen und Reprints

Abstract

Wiedemann–Steiner syndrome (WSS) is a rare genetic disorder characterized by dysmorphic features, neurodevelopmental delay, growth retardation, and hypertrichosis cubiti. It is caused by pathogenic variants in the KMT2A gene. Here, we report a child with WSS presented with neurodevelopmental delay. Genetic analysis revealed a heterozygous c.2312dupC (p.Ser774Valfs*11) variant at the KMT2A gene that was classified as pathogenic in dbSNP (rs1057518649). To the best of our knowledge, this is the first patient of WSS from Turkey. This case draws attention to the diagnosis of WSS in children with neurodevelopmental delay.

Keywords

Wiedemann–Steiner syndrome - genetic - children - neurodevelopmental delay - dysmorphic

Ethical Approval

This report was approved by university ethics committee.




Publikationsverlauf

Eingereicht: 25. Mai 2020

Angenommen: 11. August 2020

Artikel online veröffentlicht:
23. September 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

  • References

  • 1 Jones WD, Dafou D, McEntagart M. et al. De novo mutations in MLL cause Wiedemann-Steiner syndrome. Am J Hum Genet 2012; 91 (02) 358-364
    CrossrefPubMedGoogle Scholar
  • 2 Miyake N, Tsurusaki Y, Koshimizu E. et al. Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. Clin Genet 2016; 89 (01) 115-119
    CrossrefPubMedGoogle Scholar
  • 3 Arora V, Puri RD, Bijarnia-Mahay S, Verma IC. Expanding the phenotypic and genotypic spectrum of Wiedemann-Steiner syndrome: first patient from India. Am J Med Genet A 2020; 182 (05) 953-956
    CrossrefPubMedGoogle Scholar
  • 4 Grangeia A, Leão M, Moura CP. Wiedemann-Steiner syndrome in two patients from Portugal. Am J Med Genet A 2020; 182 (01) 25-28
    CrossrefPubMedGoogle Scholar
  • 5 Li H, Durbin R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics 2010; 26 (05) 589-595
    Google Scholar
  • 6 Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010; 38 (16) e164
    CrossrefPubMedGoogle Scholar
  • 7 Van der Auwera GA, Carneiro MO, Hartl C, Polin R, Angel GD, Moonshine AM. et al. From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline. Curr Protoc Bioinformatics 2013; 43: 11.10.1-11.10.33
    CrossrefPubMedGoogle Scholar
  • 8 Wiedemann HR, Kunze J, Grosse FR, Dibbern H. A syndrome of abnormal facies, short stature, and psychomotor retardation. Atlas of Clinical Syndromes: A Visual Aid to Diagnosis for Clinicians and Practicing Physicians, 2nd ed. London: Wolfe Publishing Ltd.; 1989
    Google Scholar
  • 9 Steiner CE, Marques AP. Growth deficiency, mental retardation and unusual facies. Clin Dysmorphol 2000; 9 (02) 155-156
    CrossrefPubMedGoogle Scholar
  • 10 Ramirez-Montaño D, Pachajoa H. Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report. Colomb Med (Cali) 2019; 50 (01) 40-45
    CrossrefPubMedGoogle Scholar
  • 11 Aggarwal A, Rodriguez-Buritica DF, Northrup H. Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. Eur J Med Genet 2017; 60 (06) 285-288
    CrossrefPubMedGoogle Scholar
  • 12 Baer S, Afenjar A, Smol T. et al. Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: a study of 33 French cases. Clin Genet 2018; 94 (01) 141-152
    CrossrefPubMedGoogle Scholar
  • 13 Li N, Wang Y, Yang Y. et al. Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients. Orphanet J Rare Dis 2018; 13 (01) 178
    CrossrefPubMedGoogle Scholar
  • 14 Stoyle G, Banka S, Langley C, Jones EA, Banerjee I. Growth hormone deficiency as a cause for short stature in Wiedemann-Steiner Syndrome. Endocrinol Diabetes Metab Case Rep 2018; 2018: 18-0085
    PubMedGoogle Scholar
  • 15 Chen M, Liu R, Wu C, Li X, Wang Y. A novel de novo mutation (p.Pro1310Glnfs*46) in KMT2A caused Wiedemann-Steiner syndrome in a Chinese boy with postnatal growth retardation: a case report. Mol Biol Rep 2019; 46 (05) 5555-5559
    CrossrefPubMedGoogle Scholar
  • 16 Calvel P, Kusz-Zamelczyk K, Makrythanasis P. et al. A case of Wiedemann-Steiner syndrome associated with a 46,XY disorder of sexual development and gonadal dysgenesis. Sex Dev 2015; 9 (05) 289-295
    CrossrefPubMedGoogle Scholar
  • 17 Steel D, Salpietro V, Phadke R. et al. Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without ‘hairy elbows’: expanding the phenotype of Wiedemann-Steiner syndrome. J Genet 2015; 94 (04) 755-758
    Google Scholar
  • 18 Mendoza C. Physical therapy management of Wiedemann-Steiner syndrome from birth to 3 years. Pediatr Phys Ther 2020; 32 (03) E64-E69
    CrossrefPubMedGoogle Scholar
  • 19 Lebrun N, Giurgea I, Goldenberg A. et al. Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome. Eur J Hum Genet 2018; 26 (01) 107-116
    CrossrefPubMedGoogle Scholar