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Cranio–lenticulo–sutural dysplasia (CLSD, or Boyadjiev-Jabs syndrome) is a neonatal/infancy disease caused by a disorder in the 14th chromosome. It is an autosomal recessive disorder, meaning that both recessive genes must be inherited from each parent in order for the disease to manifest itself. The disease causes a significant dilation of the endoplasmic reticulum in fibroblasts of the host with CLSD. Due to the distension of the endoplasmic reticulum, export of proteins (such as collagen) from the cell is disrupted. The production of SEC23A protein is involved in the pathway of exporting collagen (the COPII pathway), but a missense mutation causes and underproduction of SEC23A which inhibits the pathway, affecting collagen secretion. This decrease in collagen secretion can lead to the bone defects that are also characteristic of the disease, such as skeletal dysplasia and under-ossification. Decreased collagen in CLSD-affected individuals contributes to improper bone formation, because collagen is a major protein in the extracellular matrix and contributes to its proper mineralization in bones. It has also been hypothesized that there are other defects in the genetic code besides SEC23A that contribute to the disorder.
References
- "Symptoms of Craniolenticulosutraldysplasia." Right Diagnosis. Healthgrades. Web. 10 February 2014. http://www.rightdiagnosis.com/c/craniolenticulosutural_dysplasia/symptoms.htm
- Bi, X; Mancias, JD; Goldberg, J (Nov 2007). "Insights into COPII coat nucleation from the structure of Sec23.Sar1 complexed with the active fragment of Sec31.". Developmental Cell 13 (5): 635–45. doi:10.1016/j.devcel.2007.10.006. PMID 17981133. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2686382
- "Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking". Nat. Genet. 38 (10): 1192–7. October 2006. doi:10.1038/ng1876. PMID 16980979. https://dx.doi.org/10.1038%2Fng1876
- Boyadjiev, S.A., Kim, S.-D., Hata, A., Haldeman-Englert, C., Zackai, E., Naydenov, C., Hamamoto, S., Schekman, R. and Kim, J. (2011), Cranio–lenticulo–sutural dysplasia associated with defects in collagen secretion. Clinical Genetics, 80: 169–176. doi:10.1111/j.1399-0004.2010.01550 https://doi.org/10.1111%2Fj.1399-0004.2010.01550
- Genetic Mutation Identified as Cause of Cranio-lenticulo-sutural Dysplasia. (October 11, 2012). RxPG News. http://www.rxpgnews.com/genetics/Genetic_mutation_identified_as_cause_of_cranio-len_5012_5012.shtml
