Mabry Syndrome

Mabry Syndrome

Introduction to Mabry Syndrome

Chromosome 11

What is Mabry Syndrome?

• Made up of 135 million DNA blocks.
• Represents 4-4.5% of total DNA within the cells.
• Contains 1,300-1,400 genes that provide instructions for making the proteins (Chromosome 11, 2012).

Mabry Syndrome is an intellectual disability. People with Mabry Syndrome have very distinctive facial features and almost double the amount of alkaline phosphatase in their blood compared to people who do not have Mabry Syndrome (Mabry Syndrome, 2013).

(Krawitz, 2012)

References

What is it like to have Mabry Syndrome?

How Many People Have or are Affected by Mabry Syndrome?

Having this syndrome, an individual would have an intellectual disability, experience seizures due to the epilepsy, have little to no speech development, low muscle tone, and delayed motor skills (Mabry Syndrome, 2013).

In our research we have found there are only about 20 cases of Mabry Syndrome to have been documented (Mabry Syndrome, 2013).

Chromosome 11 (2012, October). Retrieved April 16, 2015 from web.

Haldeman-Englert, C. (2014, May 5). Autosomal

recessive: MedlinePlus Medical Encyclopedia. Retrieved April 21, 2015, from http://www.nlm.nih.gov/medlineplus/ency/article/002052.html.

Horn, D., Schottmann, G., & Melnecke, P. (2010).

Hyperphosphatasoa with Mental Retardation, Brachytelephalangry, and a Distinct Facial gestalt: Delineation of a Recognizable Syndrome. European Journal of Medical Genetics, 53(2), 85-88.

Krawitz, P., Murakami, Y., Hecht, J., Kruger, U., Holder, S., Mortier,

G., . . . Horn, D. (2012). The World of AJHG. The American Journal of Human Genetics, 91(1), 146-151

Mabry Syndrome. (2013, August). Retrieved April 16, 2015 from

http://ghr.nlm.nih.gov/condition/mabry-syndrome.

Paddock, C. (2010, August 30). Rare Gene for Mabry Syndrome

Found with Faster Simultaneous Genetic Analysis. Retrieved April 16, 2015, from http://www.medicalnewstoday.com/articles/199350.php.

Thompson, M., & Percy, M. (n.d.). Other Syndromes and

Disorders Associated with Developmental Disabilities. Retrieved April 16, 2015, from http://www.researchgate.net/profile/Miles_Thompson/.publication/257139342_Syndromes_and_Disorders_associated_with_Developmental_Disabilities/links/0046352477560c60cc000000.pdf.

Types of Biometrics. (n.d.). Retrieved April 16, 2015, from http://

www.biometricsinstitute.org/pages/types-of-biometrics.html.

Conclusion

Mabry Syndrome is an intellectual disability that is accompanied by seizures and a doubled amount of alkaline phosphatase in their blood system. This condition can be detected at birth by looking at the individual and noticing their distinct facial features and by testing their blood for the alkaline phosphatase. However, it seems not much information is known on this condition, because it is a very rare condition to inherit. Only about 20 cases have been found with individuals who have Mabry Syndrome (Mabry Syndrome, 2013).

Specific Information Continued

Expression of the Phenotype

Mabry Syndrome is apparent at birth, the parents of a child with Mabry Syndrome will be able to right away that their child has this syndrome. They can tell by the distinct facial features, which include: wide-set eyes, nose with broad bridge and a rounded tip, a thin upper lip and down turned corners of the mouth. Mabry Syndrome does not seem to be fatal, just the individuals with this condition will experience intellectual disabilities, developmental delay, and seizures (Mabry Syndrome, 2010).

Availability of Genetic Testing

Scientists or medical doctors can test for this syndrome through blood tests and biometric analysis. Biometric analysis is the studying of an individual's DNA (Types of Biometrics). Doctor's or researchers would test the individual's blood for the lack of the alkaline phosphatase (Mabry Syndrome, 2013).

Prognosis for Affected Individuals

It does not seem that Mabry Syndrome can be avoided, it is a syndrome that has not been extensively studied. With that being said there is not much information out there on the syndrome and how it can be avoided or how genetic counseling and gene therapy can be used to help with the condition.

Specific Information on the Disorder

Genetic Transmission

Mabry Syndrome is genetically transmitted through autosomal recessive inheritance (Haldeman-Englert, 2014). This means that two copies of the abnormal or mutated gene need to be present in order for the disease or trait to develop (Horn, 2010).

There is not much research done on this condition, but as far as researchers know, Mabry Syndrome is not linked to gender (Thompson and Percy).

Orgins or Discovery of Mabry Syndrome

Mabry Syndrome was found in a single family by German scientists from the Max Planck Institute for Molecular Genetics and the Institute of Medical Genetics at the Charité Universitätsmedizin in Berlin (Paddock, 2010).

Genome and Proteome Connection

There are three genes when mutated that have been known to cause Mabry Syndrome. These genes include PIGV, PIGO, and PGAP2. These genes are involved in the production or synthesis of glycosylphosphatidylinositol (GPI) anchor. The incompletion of the GPI anchor can cause the mutation of these genes and the proteins being released from the cell because of the lack of the GPI anchor. (Mabry Syndrome, 2013).