Publications by authors named "Jennifer Fabre-Teste"
Article Synopsis
- - Primrose syndrome involves various symptoms like intellectual deficiency, behavioral issues, distinctive facial features, progressive hearing loss, and muscle problems, all linked to mutations in the ZBTB20 gene, which is crucial for cognitive functions.
- - A study examined 14 patients with different types of ZBTB20 mutations, revealing that those with missense variants had more severe symptoms, including more frequent hearing loss and specific complications like ectopic calcification.
- - The research found common facial features in all patients and significant differences in age and health issues associated with the genetic variants, suggesting a need for further study to understand the progression of the condition, particularly in patients with deletions.
Article Synopsis
- * A study involved 903 ID patients, discovering de novo variants in the TCF4 gene among eight individuals, indicating that about 0.7% of ID cases may be linked to TCF4 mutations.
- * TCF4 is now recognized not just for causing Pitt-Hopkins syndrome but also as a common factor in moderate to profound non-specific ID cases, expanding the understanding of its clinical implications.
Article Synopsis
- - CHARGE syndrome is a rare genetic disorder primarily caused by mutations in the CHD7 gene, often occurring as de novo mutations.
- - The study identifies a specific area with recurrent mutations in the CHD7 gene, highlighting a particular genomic context that makes these mutations impactful, including issues with natural acceptor sites.
- - By using computational analysis and experimental methods, the research shows that these mutations create new splice sites, suggesting that combining different diagnostic techniques could improve molecular diagnosis in patients.
Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases.
Essam Al Ageeli
,
Séverine Drunat
,
Catherine Delanoë
,
Laurence Perrin
,
Clarisse Baumann
,
Jennifer Fabre-Teste
Eur J Med Genet
January 2014
Background: 15q11-q13 region is an area of well-known susceptibility to genomic rearrangements, in which several breakpoints have been identified (BP1-BP5). Duplication of this region is observed in two instances: presence of a supernumerary marker chromosome (SMC) derived of chromosome 15, or interstitial tandem duplication. Duplications are clinically characterized by a variable phenotype that includes central hypotonia, developmental delay, speech delay, seizure, minor dysmorphic features and autism.
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