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A novel EDA gene mutation in a Spanish family with X-linked hypohidrotic ectodermal dysplasia
Una nueva mutación en el gen EDA en una familia espa¿nola con displasia ectodérmica hipohidrótica ligada al cromosoma X
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It is caused by mutations in the <span class="elsevierStyleItalic">EDA</span> gene, which maps to the X chromosome and encodes a protein called ectodysplasin-A, a member of the tumor necrosis factor-related ligand family. Affected males typically exhibit all the typical features of HED, but heterozygous carriers may show mild to moderate clinical manifestations. We describe the case of a Spanish family in which a novel heterozygous c.733 734insGA mutation at the <span class="elsevierStyleItalic">EDA</span> gene was identified. It was located in exon 5 and consisted of a frame-shift mutation at codon 245, which gave rise to an abnormal protein with a premature stop codon after 35 residues. Genetic analyses in families with XLHED are useful for checking carrier status, but they also provide information for genetic counseling and prenatal diagnosis.</p>" ] "es" => array:2 [ "titulo" => "Resumen" "resumen" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">La displasia ectodérmica hipohidrótica ligada al cromosoma X (XLHED) se caracteriza por un desarrollo anormal del pelo, los dientes y las glándulas sudoríparas. Está producida por mutaciones en el gen <span class="elsevierStyleItalic">EDA</span>, que se localiza en el cromosoma X y codifica para la proteína Ecdodisplasina A, miembro de la familia de ligandos relacionados con el factor de necrosis tumoral. Los varones afectados normalmente exhiben todas las características de la enfermedad, pero los portadores heterocigotos pueden mostrar manifestaciones de leves a moderadas. Aquí se describe una familia espa¿nola en la que hemos identificado una mutación c.733 734insGA, previamente no descrita, en el gen <span class="elsevierStyleItalic">EDA</span>. Se localizaba en el exón 5 y producía un cambio en la fase de lectura en el codón 245 de la proteína, lo que daba lugar a un codón de parada prematuro tras 35 residuos. El análisis genético en familias con XLHED es fundamental para la identificación de las portadoras, para el diagnóstico prenatal y en general para proporcionar un asesoramiento genético correcto.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:7 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Towards a new classification of ectodermal dysplasias" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:1 [ 0 => "J. 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Mikkola" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Am J Med Genet A" "fecha" => "2009" "volumen" => "149" "paginaInicial" => "2031" "paginaFinal" => "2036" ] ] ] ] ] ] 6 => array:3 [ "identificador" => "bib0035" "etiqueta" => "7" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Mutation analysis of the ED1 gene in two Chinese Han families with X-linked hypohidrotic ectodermal dysplasia" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "X.J. Zhang" 1 => "J.J. Chen" 2 => "Y.X. Song" 3 => "S. Yang" 4 => "X.Y. Xiong" 5 => "A.P. Zhang" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1007/s00403-003-0394-7" "Revista" => array:6 [ "tituloSerie" => "Arch Dermatol Res" "fecha" => "2003" "volumen" => "295" "paginaInicial" => "38" "paginaFinal" => "42" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/12682853" "web" => "Medline" ] ] ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/15782190/0000010200000009/v1_201304241238/S1578219011000990/v1_201304241238/en/main.assets" "Apartado" => array:4 [ "identificador" => "6183" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Case Reports" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/15782190/0000010200000009/v1_201304241238/S1578219011000990/v1_201304241238/en/main.pdf?idApp=UINPBA000044&text.app=https://actasdermo.org/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S1578219011000990?idApp=UINPBA000044" ]
| año/Mes | Html | Total | |
|---|---|---|---|
| 2024 Noviembre | 6 | 7 | 13 |
| 2024 Octubre | 66 | 43 | 109 |
| 2024 Septiembre | 71 | 20 | 91 |
| 2024 Agosto | 87 | 57 | 144 |
| 2024 Julio | 65 | 36 | 101 |
| 2024 Junio | 66 | 31 | 97 |
| 2024 Mayo | 64 | 31 | 95 |
| 2024 Abril | 67 | 31 | 98 |
| 2024 Marzo | 68 | 33 | 101 |
| 2024 Febrero | 53 | 26 | 79 |
| 2024 Enero | 49 | 35 | 84 |
| 2023 Diciembre | 53 | 17 | 70 |
| 2023 Noviembre | 48 | 30 | 78 |
| 2023 Octubre | 43 | 17 | 60 |
| 2023 Septiembre | 47 | 26 | 73 |
| 2023 Agosto | 26 | 21 | 47 |
| 2023 Julio | 40 | 29 | 69 |
| 2023 Junio | 47 | 21 | 68 |
| 2023 Mayo | 33 | 29 | 62 |
| 2023 Abril | 30 | 19 | 49 |
| 2023 Marzo | 30 | 21 | 51 |
| 2023 Febrero | 34 | 15 | 49 |
| 2023 Enero | 28 | 31 | 59 |
| 2022 Diciembre | 47 | 32 | 79 |
| 2022 Noviembre | 24 | 20 | 44 |
| 2022 Octubre | 18 | 15 | 33 |
| 2022 Septiembre | 23 | 36 | 59 |
| 2022 Agosto | 21 | 27 | 48 |
| 2022 Julio | 21 | 30 | 51 |
| 2022 Junio | 21 | 31 | 52 |
| 2022 Mayo | 29 | 47 | 76 |
| 2022 Abril | 35 | 41 | 76 |
| 2022 Marzo | 45 | 54 | 99 |
| 2022 Febrero | 31 | 28 | 59 |
| 2022 Enero | 22 | 39 | 61 |
| 2021 Diciembre | 23 | 40 | 63 |
| 2021 Noviembre | 33 | 40 | 73 |
| 2021 Octubre | 41 | 53 | 94 |
| 2021 Septiembre | 26 | 39 | 65 |
| 2021 Agosto | 20 | 29 | 49 |
| 2021 Julio | 18 | 28 | 46 |
| 2021 Junio | 19 | 31 | 50 |
| 2021 Mayo | 30 | 45 | 75 |
| 2021 Abril | 53 | 55 | 108 |
| 2021 Marzo | 63 | 27 | 90 |
| 2021 Febrero | 39 | 29 | 68 |
| 2021 Enero | 31 | 19 | 50 |
| 2020 Diciembre | 24 | 9 | 33 |
| 2020 Noviembre | 19 | 19 | 38 |
| 2020 Octubre | 18 | 15 | 33 |
| 2020 Septiembre | 23 | 15 | 38 |
| 2020 Agosto | 29 | 15 | 44 |
| 2020 Julio | 14 | 15 | 29 |
| 2020 Junio | 31 | 26 | 57 |
| 2020 Mayo | 39 | 18 | 57 |
| 2020 Abril | 29 | 13 | 42 |
| 2020 Marzo | 33 | 26 | 59 |
| 2020 Febrero | 3 | 4 | 7 |
| 2020 Enero | 0 | 1 | 1 |
| 2019 Diciembre | 4 | 1 | 5 |
| 2019 Noviembre | 0 | 1 | 1 |
| 2019 Octubre | 0 | 4 | 4 |
| 2019 Septiembre | 6 | 0 | 6 |
| 2019 Julio | 0 | 1 | 1 |
| 2019 Junio | 0 | 2 | 2 |
| 2019 Mayo | 2 | 19 | 21 |
| 2019 Abril | 2 | 1 | 3 |
| 2019 Marzo | 0 | 7 | 7 |
| 2019 Febrero | 2 | 3 | 5 |
| 2018 Diciembre | 2 | 0 | 2 |
| 2018 Noviembre | 3 | 0 | 3 |
| 2018 Octubre | 3 | 0 | 3 |
| 2018 Septiembre | 1 | 0 | 1 |
| 2018 Abril | 0 | 2 | 2 |
| 2018 Marzo | 1 | 0 | 1 |
| 2018 Febrero | 20 | 9 | 29 |
| 2018 Enero | 37 | 6 | 43 |
| 2017 Diciembre | 30 | 11 | 41 |
| 2017 Noviembre | 24 | 6 | 30 |
| 2017 Octubre | 24 | 5 | 29 |
| 2017 Septiembre | 39 | 17 | 56 |
| 2017 Agosto | 45 | 7 | 52 |
| 2017 Julio | 38 | 6 | 44 |
| 2017 Junio | 45 | 24 | 69 |
| 2017 Mayo | 35 | 15 | 50 |
| 2017 Abril | 35 | 8 | 43 |
| 2017 Marzo | 29 | 14 | 43 |
| 2017 Febrero | 22 | 11 | 33 |
| 2017 Enero | 24 | 10 | 34 |
| 2016 Diciembre | 40 | 6 | 46 |
| 2016 Noviembre | 53 | 12 | 65 |
| 2016 Octubre | 46 | 18 | 64 |
| 2016 Septiembre | 57 | 9 | 66 |
| 2016 Agosto | 63 | 10 | 73 |
| 2016 Julio | 42 | 8 | 50 |
| 2016 Junio | 8 | 8 | 16 |
| 2016 Mayo | 10 | 10 | 20 |
| 2016 Abril | 7 | 17 | 24 |
| 2016 Marzo | 17 | 9 | 26 |
| 2016 Febrero | 17 | 15 | 32 |
| 2016 Enero | 14 | 13 | 27 |
| 2015 Diciembre | 13 | 9 | 22 |
| 2015 Noviembre | 18 | 11 | 29 |
| 2015 Octubre | 20 | 5 | 25 |
| 2015 Septiembre | 27 | 4 | 31 |
| 2015 Agosto | 21 | 7 | 28 |
| 2015 Julio | 50 | 6 | 56 |
| 2015 Junio | 44 | 8 | 52 |
| 2015 Mayo | 88 | 16 | 104 |
| 2015 Abril | 67 | 14 | 81 |
| 2015 Marzo | 46 | 17 | 63 |
| 2015 Febrero | 42 | 17 | 59 |
| 2015 Enero | 50 | 13 | 63 |
| 2014 Diciembre | 70 | 7 | 77 |
| 2014 Noviembre | 40 | 13 | 53 |
| 2014 Octubre | 53 | 18 | 71 |
| 2014 Septiembre | 41 | 12 | 53 |
| 2014 Agosto | 50 | 17 | 67 |
| 2014 Julio | 54 | 21 | 75 |
| 2014 Junio | 74 | 17 | 91 |
| 2014 Mayo | 73 | 17 | 90 |
| 2014 Abril | 58 | 15 | 73 |
| 2014 Marzo | 75 | 14 | 89 |
| 2014 Febrero | 58 | 16 | 74 |
| 2014 Enero | 64 | 16 | 80 |
| 2013 Diciembre | 55 | 15 | 70 |
| 2013 Noviembre | 27 | 10 | 37 |
| 2013 Octubre | 9 | 7 | 16 |
| 2013 Septiembre | 6 | 9 | 15 |
| 2013 Agosto | 14 | 6 | 20 |
| 2013 Julio | 11 | 16 | 27 |
| 2013 Junio | 12 | 14 | 26 |
| 2013 Mayo | 26 | 10 | 36 |
| 2013 Abril | 22 | 18 | 40 |
| 2013 Marzo | 16 | 16 | 32 |
| 2013 Febrero | 22 | 5 | 27 |
| 2013 Enero | 17 | 8 | 25 |
| 2012 Diciembre | 11 | 6 | 17 |
| 2012 Noviembre | 2 | 3 | 5 |
| 2012 Octubre | 2 | 3 | 5 |
| 2012 Septiembre | 0 | 1 | 1 |
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