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FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum
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| Veröffentlicht in: | Journal of medical genetics 54(2017), 1, Seite 64-72 |
|---|---|
| Personen und Körperschaften: | , |
| Titel: | FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum/ Miriam S. Reuter, Angelika Riess, Ute Moog, Tracy A. Briggs, Kate E. Chandler, Anita Rauch, Miriam Stampfer, Katharina Steindl, Dieter Gläser, Pascal Joset, D.D.D. Study, Mandy Krumbiegel, Harald Rabe, Uta Schulte-Mattler, Peter Bauer, Stefanie Beck-Wödl, Jürgen Kohlhase, André Reis, Christiane Zweier |
| Format: | E-Book-Kapitel |
| Sprache: | Englisch |
| veröffentlicht: |
2017
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| Gesamtaufnahme: |
: Journal of medical genetics, 54(2017), 1, Seite 64-72
, volume:54 |
| Schlagwörter: | |
| Quelle: | Verbunddaten SWB Lizenzfreie Online-Ressourcen |
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| 245 | 1 | 0 | |a FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum |c Miriam S. Reuter, Angelika Riess, Ute Moog, Tracy A. Briggs, Kate E. Chandler, Anita Rauch, Miriam Stampfer, Katharina Steindl, Dieter Gläser, Pascal Joset, D.D.D. Study, Mandy Krumbiegel, Harald Rabe, Uta Schulte-Mattler, Peter Bauer, Stefanie Beck-Wödl, Jürgen Kohlhase, André Reis, Christiane Zweier |
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| 500 | |a Im Titel ist "FOXP2" kursiv geschrieben | ||
| 520 | |a Background Disruptions of the FOXP2 gene, encoding a forkhead transcription factor, are the first known monogenic cause of a speech and language disorder. So far, mainly chromosomal rearrangements such as translocations or larger deletions affecting FOXP2 have been reported. Intragenic deletions or convincingly pathogenic point mutations in FOXP2 have up to date only been reported in three families. We thus aimed at a further characterisation of the mutational and clinical spectrum. Methods Chromosomal microarray testing, trio exome sequencing, multigene panel sequencing and targeted sequencing of FOXP2 were performed in individuals with variable developmental disorders, and speech and language deficits. Results We identified four different truncating mutations, two novel missense mutations within the forkhead domain and an intragenic deletion in FOXP2 in 14 individuals from eight unrelated families. Mutations occurred de novo in four families and were inherited from an affected parent in the other four. All index patients presented with various manifestations of language and speech impairment. Apart from two individuals with normal onset of speech, age of first words was between 4 and 7 years. Articulation difficulties such as slurred speech, dyspraxia, stuttering and poor pronunciation were frequently noted. Motor development was normal or only mildly delayed. Mild cognitive impairment was reported for most individuals. Conclusions By identifying intragenic deletions or mutations in 14 individuals from eight unrelated families with variable developmental delay/cognitive impairment and speech and language deficits, we considerably broaden the mutational and clinical spectrum associated with aberrations in FOXP2. | ||
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| contents | Background Disruptions of the FOXP2 gene, encoding a forkhead transcription factor, are the first known monogenic cause of a speech and language disorder. So far, mainly chromosomal rearrangements such as translocations or larger deletions affecting FOXP2 have been reported. Intragenic deletions or convincingly pathogenic point mutations in FOXP2 have up to date only been reported in three families. We thus aimed at a further characterisation of the mutational and clinical spectrum. Methods Chromosomal microarray testing, trio exome sequencing, multigene panel sequencing and targeted sequencing of FOXP2 were performed in individuals with variable developmental disorders, and speech and language deficits. Results We identified four different truncating mutations, two novel missense mutations within the forkhead domain and an intragenic deletion in FOXP2 in 14 individuals from eight unrelated families. Mutations occurred de novo in four families and were inherited from an affected parent in the other four. All index patients presented with various manifestations of language and speech impairment. Apart from two individuals with normal onset of speech, age of first words was between 4 and 7 years. Articulation difficulties such as slurred speech, dyspraxia, stuttering and poor pronunciation were frequently noted. Motor development was normal or only mildly delayed. Mild cognitive impairment was reported for most individuals. Conclusions By identifying intragenic deletions or mutations in 14 individuals from eight unrelated families with variable developmental delay/cognitive impairment and speech and language deficits, we considerably broaden the mutational and clinical spectrum associated with aberrations in FOXP2. |
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| spelling | Reuter, Miriam 1984- VerfasserIn (DE-588)1045180599 (DE-627)773880933 (DE-576)398828946 aut, FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum Miriam S. Reuter, Angelika Riess, Ute Moog, Tracy A. Briggs, Kate E. Chandler, Anita Rauch, Miriam Stampfer, Katharina Steindl, Dieter Gläser, Pascal Joset, D.D.D. Study, Mandy Krumbiegel, Harald Rabe, Uta Schulte-Mattler, Peter Bauer, Stefanie Beck-Wödl, Jürgen Kohlhase, André Reis, Christiane Zweier, 2017, 9, Text txt rdacontent, Computermedien c rdamedia, Online-Ressource cr rdacarrier, Published Online First 29 August 2016, Gesehen am 28.05.2018, Im Titel ist "FOXP2" kursiv geschrieben, Background Disruptions of the FOXP2 gene, encoding a forkhead transcription factor, are the first known monogenic cause of a speech and language disorder. So far, mainly chromosomal rearrangements such as translocations or larger deletions affecting FOXP2 have been reported. Intragenic deletions or convincingly pathogenic point mutations in FOXP2 have up to date only been reported in three families. We thus aimed at a further characterisation of the mutational and clinical spectrum. Methods Chromosomal microarray testing, trio exome sequencing, multigene panel sequencing and targeted sequencing of FOXP2 were performed in individuals with variable developmental disorders, and speech and language deficits. Results We identified four different truncating mutations, two novel missense mutations within the forkhead domain and an intragenic deletion in FOXP2 in 14 individuals from eight unrelated families. Mutations occurred de novo in four families and were inherited from an affected parent in the other four. All index patients presented with various manifestations of language and speech impairment. Apart from two individuals with normal onset of speech, age of first words was between 4 and 7 years. Articulation difficulties such as slurred speech, dyspraxia, stuttering and poor pronunciation were frequently noted. Motor development was normal or only mildly delayed. Mild cognitive impairment was reported for most individuals. Conclusions By identifying intragenic deletions or mutations in 14 individuals from eight unrelated families with variable developmental delay/cognitive impairment and speech and language deficits, we considerably broaden the mutational and clinical spectrum associated with aberrations in FOXP2., developmental delay, FOXP2, language, speech, Moog, Ute 1954- VerfasserIn (DE-588)1054047170 (DE-627)791007480 (DE-576)409968501 aut, Enthalten in Journal of medical genetics London : BMJ Publishing Group, 1964 54(2017), 1, Seite 64-72 Online-Ressource (DE-627)319102661 (DE-600)2009590-9 (DE-576)091210003 1468-6244 nnns, volume:54 year:2017 number:1 pages:64-72 extent:9, http://dx.doi.org/10.1136/jmedgenet-2016-104094 Verlag Resolving-System kostenfrei Volltext, http://jmg.bmj.com/content/54/1/64 Verlag kostenfrei Volltext, http://dx.doi.org/10.1136/jmedgenet-2016-104094 LFER, LFER 2018-06-06T00:00:00Z |
| spellingShingle | Reuter, Miriam, Moog, Ute, FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum, Background Disruptions of the FOXP2 gene, encoding a forkhead transcription factor, are the first known monogenic cause of a speech and language disorder. So far, mainly chromosomal rearrangements such as translocations or larger deletions affecting FOXP2 have been reported. Intragenic deletions or convincingly pathogenic point mutations in FOXP2 have up to date only been reported in three families. We thus aimed at a further characterisation of the mutational and clinical spectrum. Methods Chromosomal microarray testing, trio exome sequencing, multigene panel sequencing and targeted sequencing of FOXP2 were performed in individuals with variable developmental disorders, and speech and language deficits. Results We identified four different truncating mutations, two novel missense mutations within the forkhead domain and an intragenic deletion in FOXP2 in 14 individuals from eight unrelated families. Mutations occurred de novo in four families and were inherited from an affected parent in the other four. All index patients presented with various manifestations of language and speech impairment. Apart from two individuals with normal onset of speech, age of first words was between 4 and 7 years. Articulation difficulties such as slurred speech, dyspraxia, stuttering and poor pronunciation were frequently noted. Motor development was normal or only mildly delayed. Mild cognitive impairment was reported for most individuals. Conclusions By identifying intragenic deletions or mutations in 14 individuals from eight unrelated families with variable developmental delay/cognitive impairment and speech and language deficits, we considerably broaden the mutational and clinical spectrum associated with aberrations in FOXP2., developmental delay, FOXP2, language, speech |
| swb_id_str | 505771691 |
| title | FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum |
| title_auth | FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum |
| title_full | FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum Miriam S. Reuter, Angelika Riess, Ute Moog, Tracy A. Briggs, Kate E. Chandler, Anita Rauch, Miriam Stampfer, Katharina Steindl, Dieter Gläser, Pascal Joset, D.D.D. Study, Mandy Krumbiegel, Harald Rabe, Uta Schulte-Mattler, Peter Bauer, Stefanie Beck-Wödl, Jürgen Kohlhase, André Reis, Christiane Zweier |
| title_fullStr | FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum Miriam S. Reuter, Angelika Riess, Ute Moog, Tracy A. Briggs, Kate E. Chandler, Anita Rauch, Miriam Stampfer, Katharina Steindl, Dieter Gläser, Pascal Joset, D.D.D. Study, Mandy Krumbiegel, Harald Rabe, Uta Schulte-Mattler, Peter Bauer, Stefanie Beck-Wödl, Jürgen Kohlhase, André Reis, Christiane Zweier |
| title_full_unstemmed | FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum Miriam S. Reuter, Angelika Riess, Ute Moog, Tracy A. Briggs, Kate E. Chandler, Anita Rauch, Miriam Stampfer, Katharina Steindl, Dieter Gläser, Pascal Joset, D.D.D. Study, Mandy Krumbiegel, Harald Rabe, Uta Schulte-Mattler, Peter Bauer, Stefanie Beck-Wödl, Jürgen Kohlhase, André Reis, Christiane Zweier |
| title_in_hierarchy | FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum / Miriam S. Reuter, Angelika Riess, Ute Moog, Tracy A. Briggs, Kate E. Chandler, Anita Rauch, Miriam Stampfer, Katharina Steindl, Dieter Gläser, Pascal Joset, D.D.D. Study, Mandy Krumbiegel, Harald Rabe, Uta Schulte-Mattler, Peter Bauer, Stefanie Beck-Wödl, Jürgen Kohlhase, André Reis, Christiane Zweier, |
| title_short | FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum |
| title_sort | foxp2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum |
| topic | developmental delay, FOXP2, language, speech |
| topic_facet | developmental delay, FOXP2, language, speech |
| url | http://dx.doi.org/10.1136/jmedgenet-2016-104094, http://jmg.bmj.com/content/54/1/64 |