Skip to main content

Advertisement

SpringerLink
Log in

Normal immunofluorescence pattern of skin basement membranes in a family with porencephaly due to COL4A1 G749S mutation

  • Original Article
  • Published:
Neurological Sciences Aims and scope Submit manuscript

Abstract

COL4A1 mutations have been associated with cerebral small-vessel disease, including perinatal intracerebral hemorrhage with consequent porencephaly, microbleeds, and lacunar strokes. Moreover, involvement of multiple organs and tissues like kidney, muscle, and large vessels have been reported. Three related patients with porencephaly bearing the G749S mutation in the COL4A1 gene and one healthy control belonging to the same family underwent skin biopsy. Tissue was examined by means of immunofluorescence microscopy and immunoreactivity for collagen type IV in skin basement membranes was tested. In subjects with COL4A1 mutation, we did not detect significant alterations of immunofluorescence patterns in basal membranes of different skin structures. Heterozygous COL4A1 G749S mutation is associated with a normal immunofluorescence pattern of skin basement membranes. Further studies are needed to clarify the role of possible functional abnormalities of the basement membranes in patients with this mutation.

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
Fig. 4
Fig. 5

Similar content being viewed by others

References

  1. Shekhonin BV, Domogatsky SP, Muzykantov VR, Idelson GL, Rukosuev VS et al (1985) Distribution of type I, III, IV and V collagen in normal and atherosclerotic human arterial wall: immunomorphological characteristics. Coll Relat Res 5:355–368

    Article  CAS  PubMed  Google Scholar 

  2. Mayne R (1986) Collagenous proteins of blood vessels. Arteriosclerosis 6:585–593

    Article  CAS  PubMed  Google Scholar 

  3. Urabe N, Naito I, Saito K, Yonezawa T, Sado Y, Yoshioka H et al (2002) Basement membrane type IV collagen molecules in the choroids plexus, pia mater and capillaries in the mouse brain. Arch Histol Cytol 65:133–143

    Article  CAS  PubMed  Google Scholar 

  4. Gould DB, Phalan FC, van Mil SE, Sundberg JP, Vahedi K, Massin P et al (2006) Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N Engl J Med 354:1489–1496

    Article  CAS  PubMed  Google Scholar 

  5. Sibon I, Coupry I, Menegon P, Bouchet JP, Gorry P, Burgelin I et al (2007) COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke. Ann Neurol 62:177–184

    Article  PubMed  Google Scholar 

  6. Aguglia U, Gambardella A, Breedveld GJ, Oliveri RL, Le Piane E, Messina D et al (2004) Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly. Neurology 62:1613–1615

    Article  CAS  PubMed  Google Scholar 

  7. Gould DB, Phalan FC, Breedveld GJ, van Mil SE, Smith RS, Schimenti JC et al (2005) Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science 308:1167–1171

    Article  CAS  PubMed  Google Scholar 

  8. Lemmens R, Maugeri Niessen HWM, Goris A, Tousseyn T, Demaerel P et al (2013) Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency. Hum Mol Genet 2:391–397

    Article  Google Scholar 

  9. Giorgio E, Vaula G, Bosco G, Giacone S, Mancini C, Calcia A et al (2015) Two families with novel missense mutations in COL4A1: when diagnosis can be missed. J Neurol Sci 352:99–104

    Article  CAS  PubMed  Google Scholar 

  10. Plaisier E, Gribouval O, Alamowitch S, Mougenot B, Prost C, Verpont MC et al (2007) COL4A1 mutations and hereditary angiopathy with nephropathy, aneurysm and cramps (HANAC) syndrome. N Engl J Med 357:2687–2695

    Article  CAS  PubMed  Google Scholar 

  11. http://www.ncbi.nlm.nih.gov/books/NBK7046/#col4a1-dis.REF.sibon.2007.177. Visited on July 10th, 2015

  12. Kuo DS, Labelle-Dumais C, Gould DB (2012) COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets. Hum Molec Genetics 21:R97–R110

    Article  CAS  Google Scholar 

  13. Alamowitch S, Plaisier E, Favrole P, Prost C, Chen Z, Van Agtmael T et al (2009) Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. Neurology 73:1873–1882

    Article  CAS  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Author notes

    Authors and Affiliations

    1. Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy

      Sara Gasparini, Edoardo Ferlazzo & Umberto Aguglia

    2. Regional Epilepsy Center, Bianchi-Melacrino-Morelli Hospital, Reggio Calabria, Italy

      Sara Gasparini, Edoardo Ferlazzo, Vittoria Cianci & Umberto Aguglia

    3. Institute of Neurological Sciences, National Research Council, Cosenza, Italy

      Antonio Qualtieri, Alessandra Patitucci & Patrizia Spadafora

    Authors
    1. Sara Gasparini
      View author publications

      You can also search for this author in PubMed Google Scholar

    2. Antonio Qualtieri
      View author publications

      You can also search for this author in PubMed Google Scholar

    3. Edoardo Ferlazzo
      View author publications

      You can also search for this author in PubMed Google Scholar

    4. Vittoria Cianci
      View author publications

      You can also search for this author in PubMed Google Scholar

    5. Alessandra Patitucci
      View author publications

      You can also search for this author in PubMed Google Scholar

    6. Patrizia Spadafora
      View author publications

      You can also search for this author in PubMed Google Scholar

    7. Umberto Aguglia
      View author publications

      You can also search for this author in PubMed Google Scholar

    Corresponding author

    Correspondence to Umberto Aguglia.

    Ethics declarations

    Conflict of interest

    The authors declare that they have no conflict of interest.

    Additional information

    S. Gasparini and A. Qualtieri contributed equally to this work.

    Rights and permissions

    Reprints and permissions

    About this article

    Check for updates. Verify currency and authenticity via CrossMark

    Cite this article

    Gasparini, S., Qualtieri, A., Ferlazzo, E. et al. Normal immunofluorescence pattern of skin basement membranes in a family with porencephaly due to COL4A1 G749S mutation. Neurol Sci 37, 459–463 (2016). https://doi.org/10.1007/s10072-015-2435-3

    Download citation

    • Received:

    • Accepted:

    • Published:

    • Issue Date:

    • DOI: https://doi.org/10.1007/s10072-015-2435-3

    Keywords

    Search

    Navigation