Publications by authors named "Helen Fryssira-Kanioura"
Angelman Syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delay, speech impairment and unique behaviors including inappropriate laughter and happy disposition. AS is related to deficient maternal UBE3A gene expression caused either by chromosomal deletions, uniparental disomy, molecular defects of the imprinted 15q11-q13 critical region or by loss of function mutations in the maternally inherited UBE3A. In the present study, screening UBE3A was performed in 43 patients who were referred for AS but whom previous molecular diagnostic tests failed to provide a diagnosis.
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- - Mutations in the MECP2 gene are a major cause of Rett syndrome (RTT), affecting girls and leading to developmental regression and other neurological issues.
- - The study analyzed MECP2 mutations in 281 patients with RTT and other mental retardation (MR) variants, finding mutations in about 70% of classic RTT cases and 21% of variant cases.
- - Results indicate that MECP2-positive patients exhibit more severe symptoms, highlighting the potential for genetic analysis to aid in diagnosing RTT and related conditions.
The MECP2 gene mutations cause Rett syndrome (RTT) (OMIM: 312750), an X-linked dominant disorder primarily affecting girls. Until RTT was considered lethal in males, although now approximately 60 cases have been reported. Males with MECP2 mutations present with a broad spectrum of phenotypes ranging from neonatal encephalopathy to nonsyndromic mental retardation (MR).
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