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Rett syndrome is a dominant X-linked male-lethal disorder largely caused by mutations in the gene encoding methyl-CpG binding protein 2 (MECP2). Clinical manifestations include neurodevelopmental disorder characterized by early-onset intractable seizures, severe developmental delay, intellectual disability, and abnormal electroencephalograms. Affli...
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... Rett syndrome has been consider that the periods of apnea may contribute to brain damage because oxygen saturation levels as low as 50% have been noted. Infants with RTT show normal growth and development until the age of 6-18 months, followed by regression of skills and development; they often exhibit autistic behaviours in the early stages 4 . Neurodevelopment has been referred to as neurological regression that severely affects cognitive, motor, communication skills and by autonomic dysfunction and often seizure disorder, a disturbed breathing pattern with hyperventilation, periodic apnoea, scoliosis, growth retardation and gait apraxia 5 . ...
Rett syndrome (RS) is characterised by a severe neurodevelopmental disorder that contributes significantly to severe intellectual disability in females worldwide. The Majority of the cases were caused by mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2). The Mutation of MECP2 was seen in 70% -80% cases and remaining 20%-30% of the cases were attributes to unknown mutation. Neurodevelopment has been referred to as neurological regression that severely affects cognitive, motor, communication skills and by autonomic dysfunction and often seizure disorder, a disturbed breathing pattern with hyperventilation, periodic apnoea, scoliosis, growth retardation and gait apraxia. The most common oral findings were bruxism. No etiological treatment is available in modern medicine. We discuss the clinical aspects and review in clinical and homoeopathic management. Key words: Rett Syndrome, Neuro-developmental disorder, Neurological regression, Individualisation, Homoeopathy
El Síndrome de Rett es un trastorno severo del neurodesarrollo, caracterizado por un desarrollo psicomotor aparentemente normal hasta los primeros 6 meses de vida seguido por el estancamiento y regresión del crecimiento, sistema motor, lenguaje y habilidades sociales posteriores, no asociado a una injuria cerebral por trauma, desordenes metabólicos o infecciones severas. A menudo se observa un comportamiento autista en etapas tempranas: otros síntomas que acompañan este trastorno incluyen convulsiones, alteraciones respiratorias como la hiperventilación, apnea y aerofagia, ataxia y estereotipas con las manos. Representa la segunda causa de discapacidad intelectual en las mujeres. Es causado por una mutación ligada a X que codifica a la proteína ligadora de metil CpG-2 (MECP2). A continuación se presentan dos casos de pacientes con síndrome de Rett una de ellas con estudio molecular positivo.Acta Pediátrica Hondureña, Vol. 6, No. 1 Abril 2015 a Septiembre 2015: 438-443
Objectives:
Rett syndrome is an X linked dominant neurodevelopmental disorder which almost exclusively affects females. The syndrome is usually caused by mutations in MECP2 gene, which is a nuclear protein that selectively binds CpG dinucleotides in the genome.
Materials & methods:
To provide further insights into the distribution of mutations in MECP2 gene, we investigated 24 females with clinical characters of Rett syndrome referred to Alzahra University Hospital in Isfahan, Iran during 2015-2017. We sequenced the entire MECP2 coding region and splice sites for detection of point mutations in this gene. Freely available programs including JALVIEW, SIFT, and PolyPhen were used to find out the damaging effects of unknown mutations.
Results:
Direct sequencing revealed MECP2 mutations in 13 of the 24 patients. We identified in 13 patients, 10 different mutations in MECP2 gene. Three of these mutations have not been reported elsewhere and are most likely pathogenic.
Conclusion:
Defects in MECP2 gene play an important role in pathogenesis of Rett syndrome. Mutations in MECP2 gene can be found in the majority of Iranian RTT patients. We failed to identify mutations in MECP2 gene in 46% of our patients. For these patients, further molecular analysis might be necessary.
Background The X-linked cyclin-dependent kinase like 5 (CDKL5/STK9) gene has been shown to be responsible for a severe encephalopathy condition characterized by early onset of epilepsy and severe developmental delay. CDKL5 mutations have been shown to be more frequent among female patients. Results Here we report a 6- month male patient, second child of a healthy non consanguineous in the Iranian population. He has been affected by early onset epileptic refractory seizures and developmental delay. Whole-exome sequencing (WES) has revealed a base substitution c.173T>A in CDKL5 gene, resulting in the formation of stop codon p.L58X. This mutation resides in the catalytic domain of the corresponding protein and is expected to result in premature RNA break down with no CDKL5 resulting protein. Conclusion The present report highlights the importance of CDKL5 mutation analysis in male patients affected with early onset refractory epilepsy.
