Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects

Conclusion This paper broadens the phenotypes associated with LAMA1 mutations. We demonstrate that LAMA1 deficiency can lead to alteration in cytoskeletal dynamics, which may invariably lead to alteration in dendrite growth and axonal formation. Estimation of disease prevalence based on population studies in LAMA1 reveals a prevalence of 1–20 in 1 000 000. Trial registration number: NCT00068224

http://jmg.bmj.com/cgi/content/short/53/5/318?rss=1

Source: Journal of Medical Genetics - April 21, 2016 Category: Genetics & Stem Cells Authors: Vilboux, T., Malicdan, M. C. V., Chang, Y. M., Guo, J., Zerfas, P. M., Stephen, J., Cullinane, A. R., Bryant, J., Fischer, R., Brooks, B. P., Zein, W. M., Wiggs, E. A., Zalewski, C. K., Poretti, A., Bryan, M. M., Vemulapalli, M., Mullikin, J. C., Kirby, M Tags: Eye Diseases, Guidelines Cognitive and behavioural genetics Source Type: research