Genetic approach to the patient and the family: A Rett Syndrome case with p.R270X mutation in MECP2 gene

Hazan, Filiz; Guzel, Orkide; Celegen, Mehmet; Tukun, Ajlan
January 2013
Turkish Journal of Biochemistry / Turk Biyokimya Dergisi;2013, Vol. 38 Issue 1, p109
Academic Journal
Case Study
Rett syndrome is an X-linked dominant neurodevelopmental disorder which is primarily seen in girls. Mutations in the MECP2 gene are responsible for 80% of affected patients. The most common mutations are found in exons 3, 4 of this gene. Most MECP2 alterations are de novo and the recurrence risk is low. Approximately 1% of all affected patients are thought to be familial and clinically unaffected carrier mothers have been reported. Here, we present 3 year old girl patient who had all of the diagnostic criteria for typical Rett syndrome. The de novo, heterozygous c.808C>T mutation was detected by sequence analysis of exon 3 in the MECP2 gene. We report this patient to emphasize the importance of the steps followed in the molecular analysis in Rett syndrome. Hovewer, when the mutation was detected in a patient, the molecular analysis of the mother is extremely important for correct genetic counseling.


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