Skip to main content
Log in

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

  • RESEARCH NOTE
  • Published:
Journal of Genetics Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Figure 1
Figure 2

References

  • Cao Q., Peng Y., Ge J., Zhang Y., Zhu J. and Zhao L. 2014 A novel 5p15.33-14.1 deletion and 4q34.24-35.2 duplication in a patient with mental retardation, dysmorphic features and severe speech delay. J. Genet. 93, 159–162.

    Article  PubMed  Google Scholar 

  • Flannery D. B., Fink S. M., Francis G. and Gilman P. A. 1989 Hypertrichosis cubiti. Am. J. Med. Genet. 32, 482–483.

    Article  CAS  PubMed  Google Scholar 

  • Jones W., Dafou D., McEntaggart M., Woollard W., Elmslie F., Holder-Espinasse M. et al. 2012. De novo mutations in MLL cause Wiedemann–Steiner syndrome. Am. J. Hum. Genet. 91, 358–364.

    CAS  PubMed  Google Scholar 

  • Koç A., Karaer K., Ergün M. A., Cinaz P. and Perçin E. F. 2007 A new case of hairy elbows syndrome (hypertrichosis cubiti). Genet. Couns. 18, 325–330.

    PubMed  Google Scholar 

  • Koenig J., Meinecke P., Kuechler A., Schaefer D. and Mueller D. 2010 Weidemann–Steiner syndrome: three further cases. Am. J. Med. Genet. 152, 2372–2375.

    Article  Google Scholar 

  • MacDermot K. D., Patton M. A., Williams M. J. and Winter R. M. 1989 Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association. J. Med. Genet. 26, 382–385.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Mendelsohn B. A., Pronold M., Long R., Smaoui N. and Slavotinek A. M. 2014 Advanced bone age in a girl with Wiedemann–Steiner syndrome and an exonic deletion in KMT2A (MLL). Am. J. Med. Genet. A 164, 2079–2083.

    Article  CAS  Google Scholar 

  • Pavone P., Briuglia S., Falsaperla R., Warm A., Pavone V., Bernardini L. et al. 2014 Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11–13q12.13. Am. J. Med. Genet. A 164, 1734–1743.

    Article  CAS  Google Scholar 

  • Polizzi A., Pavone P., Ciancio E., La Rosa C., Sorge G. and Ruggieri M. 2005 Hypertrichosis cubiti (hairy elbow syndrome): a clue to a malformation syndrome. J. Pediatr. Endocrinol. Metab. 18, 1019–1025.

    Article  PubMed  Google Scholar 

  • Portin P. 2014 The birth and development of the DNA theory of inheritance: sixty years since the discovery of the structure of DNA. J. Genet. 93, 293–302.

    Article  CAS  PubMed  Google Scholar 

  • Singh S. H., Kumar P., Ramachandra N. B. and Nongthomba U. 2014 Roles of the troponin isoforms during indirect flight muscle development in Drosophila. J. Genet. 93, 379–388.

    Article  CAS  PubMed  Google Scholar 

  • Steiner C. and Marques A. 2000 Growth deficiency, mental retardation and unusual facies. Clin. Dysmorphol. 9, 155–156.

    Article  CAS  PubMed  Google Scholar 

  • Strom S. P., Lozano R., Lee H., Dorrani N., Mann J., O’Lague P. F. et al. 2014 De novo variants in the KMT2A (MLL) gene causing atypical Wiedemann–Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. BMC Med. Genet. 15, 49.

    Article  PubMed  PubMed Central  Google Scholar 

  • Visser R., Beemer F. A., Veenhoven R. H. and De Nef J. J. 2002 Hypertrichosis cubitii: two new cases and a review of the literatures. Genet. Couns. 13, 397–403.

    CAS  PubMed  Google Scholar 

  • Wiedemann H. R., Kunze J. and Dibbern H. 1989 Atlas der klinischen Syndrome fuer Klinik und Praxis, 3rd edition, pp. 198–199 (Stuttgart, Schattauer).

  • Yamaguchi-Kabata Y., Shimada M. K., Hayakawa Y., Minoshima S., Chakraborty R., Gojobori T. et al. 2008 Distribution and effects of nonsense polymorphisms in human genes. PLoS One 3, e3393.

    Article  PubMed  PubMed Central  Google Scholar 

Download references

Acknowledgements

We gratefully acknowledge all the clinicians and the laboratory researchers who made this study possible.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to MARIA KINALI.

Additional information

[Steel D., Salpietro V., Phadke R., Pitt M., Gentile G., Massoud A., Batten L., Bashamboo A., McElreavey K., Saggar A. and Kinali M. 2015 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. 94, xx–xx]

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

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 94, 755–758 (2015). https://doi.org/10.1007/s12041-015-0578-x

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12041-015-0578-x

Keywords

Navigation