engleski

Novel triple deletion of the MECP2 gene in atypical Rett syndrome patient

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder with variable clinical presentation. About 75-90% patients with classical and 40% with variant RTT have heterozygous mutation in the X-linked MECP2 gene. We report on a 5.5 year old girl with a novel C-terminal MECP2 triple deletion and atypical clinical presentation. The girl was born at term after an uneventful pregnancy. Her development was slow from birth. She started sitting at the age of 12 months and walking at the age of 18 months. By the age of 1 year she acquired several words, thereafter speech deteriorated. Postnatal deceleration of head growth was not present. She was evaluated at the age of 2 years and 8 months due to moderate global developmental delay and behavioural problems (aggressiveness, hyperactivity, screaming and laughing spells and impaired social interaction). At that time her height was 95.5cm (+1SD), weight 18.5kg (+2.5SD), head circumference 50cm (+1SD). On follow up no progression of mental deterioration was observed. Her gait is only mildly disturbed, she is able to walk unsupported, purposeful hand use is preserved, with only occasional stereotypic movements. DNA bidirectional sequencing of MECP2 coding exons revealed de novo triple deletion in C-terminal region of MECP2 gene - c. [1021_1037del17 ; 1057_1089del33 ; 1162_1179del18, ] not previously described. Result was confirmed with MLPA analysis. The variability of the clinical presentation of RTT emphasizes the need of the molecular analysis of MECP2 gene in all girls with developmental delay.

Rett syndrome; novel mutation

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