Molecular diagnosis and Importance of Genetic Counseling in subjects and family members with a clinical suspicion of Fragile X Syndrome
Journal Title: International Journal of Medical Science And Advanced Clinical Research (IJMACR) - Year 2019, Vol 2, Issue 3
Abstract
Background: Fragile X Syndrome (FXS) is the most common single gene cause of learning disability, hyperactivity and mild to profound Mental retardation (MR) in male patient. Permutation status can lead to premature ovarian failure, mood swings and anxiety in a subset of females. It is most commonly caused due to an expansion of an unstable CGG trinucleotide repeat in in the fragile X gene (FMR-1), which is located on Xq27.3. Aim: To study the frequency, pattern and importance of genetic counseling in patient with clinical suspicion of FXS and their family member by Triplet Repeat Primed PCR (TP PCR ) and Fragment analysis of FMR1 gene during July’2014 to Dec’2018 at Dept. of Medical Genetics, Metropolis Healthcare Ltd, Mumbai. Methods: This is retrospective study done on a total of 447 patients (375 males and 72 females) aged from 5-35 years with clinical suspicion or family history indicative of FXS. The mother’s and female siblings of male individuals with full mutation where also studied for the mutation status. A PCR based study was conducted for by Triplet primed - PCR (TP-PCR) followed by fragment analysis. Results: A total of 375 male patients with history of suspicion of Fragile X were referred out of which expansion of triplet above 200 repeats was observed in 28 (7.46%) patients, 06 (1.6%) patients showed expansion of triplet between 54 to 200 and 341 (90.93%) patients showed normal range of CGG repeats (6-54 CGG). A total of 72 females (mother or siblings) studied 07(9.72%) showed permutation status, full mutation was seen in 02 (2.7%) and 63(87%) showed normal status for repeats. Since, Metropolis Healthcare Ltd is a Global Reference Laboratory; samples for Fragile X analysis are received from all parts of India. This could be the reason for variation in the percentage of abnormality detected in our study and also because of the selection bias since only the highly suspected samples were referred to our laboratory for studies. Conclusion: The prevalence of Fragile X syndrome in individuals with clinical suspicion of Fragile X is significant and it is very important to evaluate the female siblings and offer genetic counseling to the family members as they can give birth to male child with Fragile X syndrome.
Authors and Affiliations
Dr. Shailesh Pande
Keywords
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