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Fragile X syndrome

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Jessica Zamora

on 9 December 2014

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Transcript of Fragile X syndrome

Genetics & Pathophysiology

Fragile X Syndrome
Alexis Vick, April Garza, Chheng Ly, Eman Abulalim, Jessica Zamora, Liang-Ying Wei
Introduction
Fragile X Syndrome- A genetic disorder that causes a range of developmental problems
Discovery
Fragile X syndrome, also known as Martin-Bell syndrome, was discovered by James Purdon Martin and Julia Bell.
Prevalence
Fragile X syndrome can both genders of all races and ethnicity. It is usually passed through generations but in some cases it is not present in family history.

1 in 4,000 males

1 in 8,000 females
Bailey, D. B., Raspa, M., Olmsted, M. and Holiday, D. B. (2008), Co-occurring conditions associated with FMR1 gene variations: Findings from a national parent survey. Am. J. Med. Genet., 146A: 2060–2069.
Detection

Simple, reliable DNA test can identify affected individuals.

Pregnant women are encouraged to test whether or not they are Fragile X carriers.

Widely available

Majority are still undiagnosed.
Wenstrom, K. D. Fragile X and Other Trinucleotide Repeat Diseases. Obstetrics and Gynecology Clinics of North America. 29: 1367-1376
Mutations
Permutation-contain 55-200 CGG repeats, no hypermethylation

Full mutation- 200 or more CGG expansion, hypermethylation

Irwin, S. A., Patel, B., Idupulapati, M., Harris, et.(2001), Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: A quantitative examination. Am. J. Med. Genet., 98:161-167.
Genetic Inheritance
X-linked dominance

More common in Males

FMR1 can change
Clinical Manifestations
Clinical Phenotypes
Garber, Kathryn B., Visootsak, J., Warren, Stephen T. (2008) Fragile X Syndrome. Eur J Hum Genet 16: 666-672
.
Penegarikano, O., Mulle, J.G., Warren, S.T. (2007) The Pathophysiology of Fragile X Syndrome. Annu Rev Genomics Hum Genet 8: 108-129

Clinical Phenotypes
Macroorchidism

Connective tissue dysplasia
Cognitive Findings
Developmental delay

Signs of mental retardation

Language delay

Avg IQ=40 (adult male)
Behavioral Phenotypes
Shows in >50% of patients

Emotional lability

Temperament

ADHD/Autism

Good sense of humor
Treatments
Therapeutic/ Psychopharmacological Intervention

Aripiprazole

Kooy,R.Frank,(2003), Of mice and the fragile X syndrome.Trends in Gentics.19: 148-154.

References

1. Bailey, D. B., Raspa, M., Olmsted, M. and Holiday, D. B. (2008), Co-occurring conditions associated with FMR1 gene variations: Findings from a national parent survey. Am. J. Med. Genet., 146A: 2060–2069.
2. Garber, Kathryn B., Visootsak, J., Warren, Stephen T. (2008) Fragile X Syndrome. Eur J Hum Genet 16: 666-672.
3. Hagerman, P. J. (2008). The fragile X prevalence paradox. Journal of Medical Genetics, 45, 498−499.
4. Hersh, Joseph H., Saul, Robert A., Committee on Genetics (2011) Health Supervision for Children with Fragile X Syndrome. Pediatrics 127: 994-1006.
5. Myrick, L.M., Nakamoto-Kinoshita, M., Lindor, N.M, Kirmani, S., Cheng, X. Warren, S.T. (2014) Fragile X Syndrome Due to a Missense Mutation. Eur J Hum Genet 22(10): 1185-89.
6. Seltzer, M. M., Baker, M. W., Hong, J., Maenner, M., Greenberg, J., & Mandel, D. (2012). Prevalence of CGG expansions of the FMR1 gene in a US population-based sample. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, 159B(5), 589–597.
7. Wenstrom, K. D. (2009) Fragile X and Other Trinucleotide Repeat Diseases. Obstetrics and Gynecology Clinics of North America. 29: 1367-1376
8. "What Are the Treatments for Fragile X Syndrome?" What Are the Treatments for Fragile X Syndrome? National Institutes of Health, 30 Nov. 2012. Web. 9 Dec. 2014.
9.Schott S, Best L, Bodurtha J 2013 April 25. Fragile X Syndrome. In: Levy H, Lopresti L, and Seibert D, editors. GeneFacts [Internet]. Lutherville, MD: NCHPEG; 2007-2013
Current Challenges
Everyday Challenges
Clinical Challenges
Existence of subpopulations

Better method for determining FMRP levels

Need for reliable biomarkers
Behavior

Physical/social impairments

Home environment
Full transcript