La protéine Forkhead-Box P2 (FOXP2) est un facteur de transcription appartenant au groupe des protéines Forkhead-Box[3],[4].

The KE family is a medical name designated for a British family, about half of whom exhibit a severe speech disorder called developmental verbal dyspraxia. [2] Das Forkhead-Box-Protein P2 (FOXP2) ist ein Transkriptionsfaktor und zählt zur Gruppe der Forkhead-Box-Proteine.

Diese Region ist von besonderem Interesse, da sich hier strukturelle und funktionelle Defizite in Schnittbild-Untersuchungen (Magnet-Resonanz-Tomographie) der Gehirne von Menschen mit FOXP2-Mutationen (KE Family

Behavioural phenotype The KE family first came to the attention of the scientific community in 1990 with the publication of a report that characterized the affected members’speech and language disorder as a developmental verbal dyspraxia 2. Mice with one normal copy of FOXP2 and one faulty copy (as is the case in the affected members of the KE family) seemed outwardly healthy and capable of vocalisation, but had subtle defects. cause of DVD Caused by a single point mutation in FoxP2 The story of the discovery of the FOXP2 (forkhead box P2) gene (OMIM#605317) and the elucidation of its involvement in a speech and language disorder begins with the study of a multigenerational British family known as the KE family.. Studies of the KE family appeared in the scientific literature in the early 1990s. David Canner , Michal Harel , Wayne Decatur , Alexander Berchansky

FOXP2 is required for proper brain and lung development. Entdeckt wurde FOXP2 erstmals 1998 bei Untersuchungen einer Londoner Familie, bei der viele … circuitry for speech and language that is partly, but critically, dependent on FOXP2.

Several changes involving the FOXP2 gene can result in FOXP2-related speech and language disorder, a condition that affects the development of speech and language starting in early childhood.Some affected individuals have a deletion that removes a small segment of chromosome 7, including the FOXP2 gene and several neighboring genes. By analyzing the KE family DNA sequences, scientists found that the speech problem was caused by a mutation in the FoxP2 gene located on chromosome 7 region 7q31. It is the first family with speech disorder to be investigated using genetic analyses, by which the speech impediment is discovered to be due to genetic mutation, and from which the gene FOXP2, often dubbed the "language gene", was discovered. By far the best-documented genetic cause of CAS, however, involves the FOXP2 gene on chromosome 7q31, an association which was first identified in the KE family of London (Fisher, Vargha-Khadem, Watkins, Monaco). My personal view is that the breaking of FOXP2 in the KE family is more likely to have caused a cognitive deficiency during development in those affected rather than a purely physical deficiency in oro-facial motor skills, and that The KE family is a medical name designated for a British family, about half of whom exhibit a severe speech disorder called developmental verbal dyspraxia. FOXP2 and its gene were discovered as a result of investigations on an English family known as the KE family, half of whom (fifteen individuals across three generations) suffered from a speech and language disorder called developmental verbal dyspraxia.

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