Skip to main content

Advertisement

SpringerLink
Log in

A novel AGPAT2 mutation associated with a case of late-diagnosed congenital generalized lipodystrophy type 1

  • Case Report
  • Published:
Acta Diabetologica Aims and scope Submit manuscript

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

Access this article

Log in via an institution

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

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3

References

  1. Akinci B, Sahinoz M, Oral E (2018) Lipodystrophy Syndromes: Presentation and Treatment. In: Feingold KR, Anawalt B, Boyce A, Chrousos G, Dungan K, Grossman A, Hershman JM, Kaltsas G, Koch C, Kopp P, Korbonits M, McLachlan R, Morley JE, New M, Perreault L, Purnell J, Rebar R, Singer F, Trence DL, Vinik A, Wilson DP, editors. Endotext. South Dartmouth (MA): MDText.com, Inc.; 2000; https://www.ncbi.nlm.nih.gov/books/NBK513130/

  2. Akinci B, Meral R, Oral E (2018) Phenotypic and genetic characteristics of lipodystrophy: pathophysiology, metabolic abnormalities, and comorbidities. Curr Diab Rep 18:143. https://doi.org/10.1007/s11892-018-1099-9

    Article  CAS  PubMed  Google Scholar 

  3. Hussaina I, Gargba A (2008) Lipodystrophy syndromes. Dermatol Clin 26(4):569–578

    Article  Google Scholar 

  4. Lightbourne M, Brown RJ (2017) Genetics of lipodystrophy. Endocrinol Metab Clin North Am 46(2):539–554

    Article  Google Scholar 

  5. Ceccarini G, Magno S, Pelosini C et al (2020) Congenital generalized lipoatrophy (Berardinelli-Seip Syndrome) Type 1: description of novel AGPAT2 homozygous variants showing the highly heterogeneous presentation of the disease. Front Endocrinol (Lausanne) 11:39. https://doi.org/10.3389/fendo.2020.00039

    Article  Google Scholar 

Download references

Funding

This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.

Author information

Authors and Affiliations

  1. Department of Endocrinology, Medical University of Sofia, 2 Zdrave Str, 1431, Sofia, Bulgaria

    Nevena Chakarova, Rumyana Dimova, Alexander Shinkov & Tsvetalina Tankova

  2. Department of Medical Genetics, Medical University of Sofia, 2 Zdrave Str, 1431, Sofia, Bulgaria

    Lubomir Balabanski

  3. Malinov Clinic, 46 Gotse Delchev Blvd, 1620, Sofia, Bulgaria

    Lubomir Balabanski

Authors
  1. Nevena Chakarova
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Lubomir Balabanski
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Rumyana Dimova
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Alexander Shinkov
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Tsvetalina Tankova
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Nevena Chakarova.

Ethics declarations

Conflict of interest

The authors declare that they have no conflict of interest.

Availability of data and material

The data generated during and/or analyzed during the current study are available from the corresponding author on reasonable request.

Ethical approval

This study was performed in line with the principles of the Declaration of Helsinki. Approval was granted by the Ethics Committee of the University Hospital of Endocrinology.

Informed consent

Informed consent was obtained from the patient including a separate informed consent for the genetic analysis and consent for publication of this case report and accompanying images.

Additional information

Managed by Massimo Federici.

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Supplementary file1 (PDF 923 kb)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Chakarova, N., Balabanski, L., Dimova, R. et al. A novel AGPAT2 mutation associated with a case of late-diagnosed congenital generalized lipodystrophy type 1. Acta Diabetol 58, 505–511 (2021). https://doi.org/10.1007/s00592-020-01639-w

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00592-020-01639-w

Keywords

Search

Navigation