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To increase awareness of this rare disorder, we are reporting novel findings in a sporadic case, compare them to 16 previously reported cases and establish salient criteria for clinical diagnosis. The proband suffered from general hypotonia and hypoxia caused by hypoventilation and irregular breathing. He developed abnormal movements, seizures and electroencephalogram abnormalities. He failed to thrive and to reach any motor milestones and died at 15\u2003months from central respiratory failure without a diagnosis. In a muscle biopsy, type II fibers were reduced in diameter, indicating central hypoxia. At autopsy, the brain was small with disproportionate reduction of the frontal and temporal lobes. Synaptophysin staining of synaptic vesicles was greatly reduced in cerebellar and spinal cord sections. Analysis of Golgi\u2010stained pyramidal neurons from cortical layers III and V of the frontal and temporal lobes revealed drastically diminished dendritic trees. Post\u2010mortem <jats:italic>MECP2 <\/jats:italic>mutation analysis on DNA and RNA from fibroblasts revealed a novel <jats:italic>de novo <\/jats:italic>9\u2010nucleotide deletion including the intron 3\/exon 4 splice junction. The two nucleotides flanking the deletion form a new splice site, and the aberrantly spliced transcript lacks seven nucleotides (r.378_384delTCCCCAG), causing a frameshift and premature termination codon (p.I126fsX11). Males with congenital encephalopathy, not females with RTT, represent the true human counterpart for the commonly studied <jats:italic>Mecp2<\/jats:italic>\u2010\/y mouse model and provide unique insight into the mechanisms of MeCP2 deficiency.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2008.01005.x","type":"journal-article","created":{"date-parts":[[2009,1,23]],"date-time":"2009-01-23T10:08:46Z","timestamp":1232705326000},"page":"116-126","source":"Crossref","is-referenced-by-count":74,"title":["Severe congenital encephalopathy caused by <i>MECP2 <\/i>null mutations in males: central hypoxia and reduced neuronal dendritic 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