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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 española con displasia ectodérmica hipohidrótica ligada al cromosoma X
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"apellidos" => "López-Estebaranz" ] ] ] ] ] "idiomaDefecto" => "es" "Traduccion" => array:1 [ "en" => array:9 [ "pii" => "S1578219011000941" "doi" => "10.1016/j.adengl.2011.11.007" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S1578219011000941?idApp=UINPBA000044" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0001731011001761?idApp=UINPBA000044" "url" => "/00017310/0000010200000009/v1_201304241340/S0001731011001761/v1_201304241340/es/main.assets" ] "en" => array:19 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Caso clínico</span>" "titulo" => "A novel <span class="elsevierStyleItalic">EDA</span> gene mutation in a Spanish family with X-linked hypohidrotic ectodermal dysplasia" "tieneTextoCompleto" => true "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "722" "paginaFinal" => "725" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "J. Cañueto, M.I. Zafra-Cobo, S. Ciria, P. Unamuno, R. González-Sarmiento" "autores" => array:5 [ 0 => array:4 [ "nombre" => "J." "apellidos" => "Cañueto" "email" => array:1 [ 0 => "jcanueto@yahoo.es" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">¿</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "M.I." "apellidos" => "Zafra-Cobo" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 2 => array:3 [ "nombre" => "S." "apellidos" => "Ciria" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 3 => array:3 [ "nombre" => "P." "apellidos" => "Unamuno" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 4 => array:3 [ "nombre" => "R." "apellidos" => "González-Sarmiento" "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] ] "afiliaciones" => array:3 [ 0 => array:3 [ "entidad" => "Servicio de Dermatología, Hospital Universitario de Salamanca, Salamanca, Spain" "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Unidad de Medicina Molecular, Departamento de Medicina, Universidad de Salamanca, Campus Miguel de Unamuno, Salamanca, Spain" "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "IBMCC, Universidad de Salamanca-CSIC, Campus Miguel de Unamuno, Salamanca, Spain" "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Una nueva mutación en el gen EDA en una familia española con displasia ectodérmica hipohidrótica ligada al cromosoma X" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1113 "Ancho" => 1499 "Tamanyo" => 379975 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">A and B. Clinical features of the proband. C and D. Clinical features of the proband's mother. The proband has pointed teeth, absence of the tails of the eyebrows, a congenital scaring lesion on her nose (A), and sparse thin hair (B). Her mother exhibits similar clinical signs (C and D). She never developed her adult dentition.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall">X-linked hypohidrotic ectodermal dysplasia (XLHED), OMIM 305100, is a rare genodermatosis characterized by an abnormal development of the hair, teeth, and sweat glands. XLHED is the commonest form of hypohidrotic ectodermal dysplasia, accounting for 95% of cases. It is found worldwide, with an estimated incidence of 1 in 100,000 births. It is caused by mutations in the <span class="elsevierStyleItalic">EDA</span> gene (also called <span class="elsevierStyleItalic">ED1</span>), which maps to the X chromosome (locus Xq12-q13) and it encodes a protein called ectodysplasin A, a member of the tumor necrosis factor-related ligand family that is probably involved in the early epithelial–mesenchymal interaction that regulates formation of the ectodermal appendages.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">Affected males normally exhibit all the typical features of HED, but heterozygous carriers may show mild to moderate clinical manifestations.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> We describe the findings in a Spanish family with XLHED with a novel pathogenic mutation in the <span class="elsevierStyleItalic">EDA</span> gene.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Patients and methods</span><p id="par0015" class="elsevierStylePara elsevierViewall">The proband (III-5) was a 4-year old girl who had pointed teeth, sparse thin hair, and a congenital scarring lesion on the bridge of the nose, which was thought to be a Blaschko line at that site (<a class="elsevierStyleCrossRef" href="#fig0005">fig. 1A, 1B</a>). The tail of the eyebrows was absent bilaterally, her skin was dry, and sweating was reduced. She also presented a prominent lower lip and hyperpigmentation and dryness around the eyes. Her nails were normal. The results of routine laboratory analyses were within the normal range. Her family stated that she had suffered from febrile convulsions soon after birth, although medical advice had not been sought. Her mother (II-3), who was 35 years of age, presented similar clinical features to the proband (III-5) (<a class="elsevierStyleCrossRef" href="#fig0005">figs. 1C, 1D</a>), although her skin was not so dry and her sweating could be described as being about normal. Her hyperpigmented lesions were more prominent and she also exhibited some eczematous plaques. In addition, she had never developed her adult dentition. The grandmother (I-2) and the grandfather (I-1) of the proband did not display phenotypic features, nor did the proband's father (II-4). Genetic analysis of the grandfather could not be performed as he had died. The pedigree is shown in <a class="elsevierStyleCrossRef" href="#fig0010">Figure 2</a>A.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">After giving their informed consent, genomic DNA was obtained from peripheral blood from the proband and from her family members. PCR amplification of the <span class="elsevierStyleItalic">EDA</span> gene obtained from the DNA samples was performed. The PCR conditions and primers used to amplify the <span class="elsevierStyleItalic">EDA</span> gene have been described previously.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> The reaction was conducted in a 2720 Thermal Cycler (Applied Biosystems<span class="elsevierStyleSup">®</span>). Analyses were performed in duplicate to ensure reliability of the results.</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Results and discussion</span><p id="par0025" class="elsevierStylePara elsevierViewall">Direct sequencing revealed a novel heterozygous c.734_735insGA mutation in the <span class="elsevierStyleItalic">EDA</span> gene in the proband and in her mother (<a class="elsevierStyleCrossRef" href="#fig0010">fig. 2</a>B). The grandmother and the father of the proband did not carry the mutation. One hundred alleles from healthy people were tested and failed to reveal that mutation, which was located in exon 5 and consisted of a frame-shift mutation at codon 245. This gave rise to an abnormal protein with a premature stop codon after 35 residues (Asn280Ter), generating a protein lacking the TNF homology domain. The different mutations identified in the <span class="elsevierStyleItalic">EDA</span> gene are located particularly in 3 functional clusters: the furin protease recognition site, whose codon 156 is the one most frequently affected; the collagen-like domain; and the TNF homology domain itself, as seen in this family.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> One hundred sixty-one pathogenic mutations have been recognized in XLHED (Human Gene Mutation Database, 25th March 2011). To our knowledge, the mutation we describe has never been reported.</p><p id="par0030" class="elsevierStylePara elsevierViewall">The impact of this mutation can be appreciated by means of a brief review of protein structure and function. In general, the <span class="elsevierStyleItalic">EDA</span> gene gives rise to several different transcripts through alternative splicing. The longest transcripts, EDA-A1 and EDA-A2, are the most relevant ones from the biological point of view.<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> These transcripts are produced as trimeric type II transmembrane proteins that are released from the cell surface by furin-mediated proteolytic cleavage. TNF domains are of great relevance for this protein, and their absence, as seen in our patients, leads to protein dysfunction due to an inability to bind the receptor. For further information about the role of <span class="elsevierStyleItalic">EDA</span> in the development of skin appendages and in NF-kB signalling pathway activation, readers are referred to reference.<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a></p><p id="par0035" class="elsevierStylePara elsevierViewall">The proband exhibited a more severe phenotype than her mother, explained by the X inactivation process. Because of this mechanism, some XLHED female carriers may exhibit a very mild phenotype and the probability of detection by clinical examination alone has been estimated to be of 60 to 70%.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> The XLHED carrier status can only be unequivocally determined by molecular analysis. A female carrier (the proband and her mother) has a 50% probability of having a male child with clinically severe XLHED. This observation is of particular value in the context of genetic counseling.<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a></p><p id="par0040" class="elsevierStylePara elsevierViewall">This report expands our knowledge of mutations in the <span class="elsevierStyleItalic">EDA</span> gene. Mutation analysis in families with XLHED enables carrier status to be determined and genetic counseling and prenatal diagnosis to be performed.</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Conflict of interest</span><p id="par0045" class="elsevierStylePara elsevierViewall">The authors declare that they have no conflict of interest.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:9 [ 0 => array:2 [ "identificador" => "xres96392" "titulo" => "Abstract" ] 1 => array:2 [ "identificador" => "xpalclavsec83551" "titulo" => "Keywords" ] 2 => array:2 [ "identificador" => "xres96393" "titulo" => "Resumen" ] 3 => array:2 [ "identificador" => "xpalclavsec83550" "titulo" => "Palabras clave" ] 4 => array:2 [ "identificador" => "sec0005" "titulo" => "Introduction" ] 5 => array:2 [ "identificador" => "sec0010" "titulo" => "Patients and methods" ] 6 => array:2 [ "identificador" => "sec0015" "titulo" => "Results and discussion" ] 7 => array:2 [ "identificador" => "sec0020" "titulo" => "Conflict of interest" ] 8 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2010-07-01" "fechaAceptado" => "2011-04-03" "PalabrasClave" => array:2 [ "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Keywords" "identificador" => "xpalclavsec83551" "palabras" => array:3 [ 0 => "X-linked hypohidrotic ectodermal dysplasia" 1 => "<span class="elsevierStyleItalic">EDA</span>" 2 => "Novel mutations" ] ] ] "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec83550" "palabras" => array:3 [ 0 => "Displasia ectodérmica hipohidrótica ligada al cromosoma X" 1 => "<span class="elsevierStyleItalic">EDA</span>" 2 => "Mutación nueva" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "en" => array:2 [ "titulo" => "Abstract" "resumen" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">X-linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by abnormal development of the hair, teeth, and sweat glands. 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 española 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>" ] ] "multimedia" => array:2 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1113 "Ancho" => 1499 "Tamanyo" => 379975 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">A and B. Clinical features of the proband. C and D. Clinical features of the proband's mother. The proband has pointed teeth, absence of the tails of the eyebrows, a congenital scaring lesion on her nose (A), and sparse thin hair (B). Her mother exhibits similar clinical signs (C and D). She never developed her adult dentition.</p>" ] ] 1 => array:7 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 2340 "Ancho" => 2375 "Tamanyo" => 239679 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">A. Pedigree of the family analyzed. The proband (III-5) is marked with an arrow. Half-filled symbols represent affected heterozygous carriers. A quotation mark indicates the members that were not analyzed genetically. B. The <span class="elsevierStyleItalic">EDA</span> mutation is shown: (1) the normal sequence; (2) the picture of the heterozygous; c. 734_735insGA mutation in the <span class="elsevierStyleItalic">EDA</span> gene. The black triangle indicates the site of mutation.</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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| año/Mes | Html | Total | |
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| 2020 Febrero | 4 | 2 | 6 |
| 2019 Diciembre | 0 | 5 | 5 |
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| 2019 Mayo | 0 | 7 | 7 |
| 2019 Abril | 2 | 8 | 10 |
| 2019 Marzo | 0 | 9 | 9 |
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| 2018 Octubre | 2 | 2 | 4 |
| 2018 Septiembre | 4 | 0 | 4 |
| 2018 Marzo | 3 | 0 | 3 |
| 2018 Febrero | 86 | 3 | 89 |
| 2018 Enero | 100 | 8 | 108 |
| 2017 Diciembre | 118 | 10 | 128 |
| 2017 Noviembre | 58 | 6 | 64 |
| 2017 Octubre | 62 | 6 | 68 |
| 2017 Septiembre | 55 | 15 | 70 |
| 2017 Agosto | 73 | 12 | 85 |
| 2017 Julio | 77 | 7 | 84 |
| 2017 Junio | 94 | 9 | 103 |
| 2017 Mayo | 50 | 8 | 58 |
| 2017 Abril | 61 | 9 | 70 |
| 2017 Marzo | 76 | 17 | 93 |
| 2017 Febrero | 58 | 7 | 65 |
| 2017 Enero | 59 | 5 | 64 |
| 2016 Diciembre | 72 | 7 | 79 |
| 2016 Noviembre | 106 | 7 | 113 |
| 2016 Octubre | 124 | 14 | 138 |
| 2016 Septiembre | 196 | 19 | 215 |
| 2016 Agosto | 91 | 7 | 98 |
| 2016 Julio | 55 | 8 | 63 |
| 2016 Junio | 25 | 0 | 25 |
| 2016 Mayo | 13 | 22 | 35 |
| 2016 Abril | 22 | 0 | 22 |
| 2016 Marzo | 26 | 0 | 26 |
| 2016 Febrero | 12 | 4 | 16 |
| 2016 Enero | 6 | 40 | 46 |
| 2015 Diciembre | 11 | 20 | 31 |
| 2015 Noviembre | 10 | 16 | 26 |
| 2015 Octubre | 25 | 17 | 42 |
| 2015 Septiembre | 14 | 0 | 14 |
| 2015 Agosto | 24 | 5 | 29 |
| 2015 Julio | 201 | 3 | 204 |
| 2015 Junio | 127 | 7 | 134 |
| 2015 Mayo | 177 | 14 | 191 |
| 2015 Abril | 136 | 7 | 143 |
| 2015 Marzo | 131 | 2 | 133 |
| 2015 Febrero | 102 | 1 | 103 |
| 2015 Enero | 85 | 0 | 85 |
| 2014 Diciembre | 224 | 0 | 224 |
| 2014 Noviembre | 87 | 0 | 87 |
| 2014 Octubre | 102 | 0 | 102 |
| 2014 Septiembre | 102 | 0 | 102 |
| 2014 Agosto | 102 | 0 | 102 |
| 2014 Julio | 103 | 0 | 103 |
| 2014 Junio | 116 | 0 | 116 |
| 2014 Mayo | 145 | 0 | 145 |
| 2014 Abril | 141 | 0 | 141 |
| 2014 Marzo | 154 | 21 | 175 |
| 2014 Febrero | 117 | 21 | 138 |
| 2014 Enero | 123 | 25 | 148 |
| 2013 Diciembre | 98 | 39 | 137 |
| 2013 Noviembre | 49 | 31 | 80 |
| 2013 Octubre | 32 | 27 | 59 |
| 2013 Septiembre | 25 | 28 | 53 |
| 2013 Agosto | 32 | 35 | 67 |
| 2013 Julio | 29 | 23 | 52 |
| 2013 Junio | 36 | 32 | 68 |
| 2013 Mayo | 44 | 25 | 69 |
| 2013 Abril | 28 | 22 | 50 |
| 2013 Marzo | 21 | 13 | 34 |
| 2013 Febrero | 39 | 8 | 47 |
| 2013 Enero | 26 | 10 | 36 |
| 2012 Diciembre | 21 | 7 | 28 |
| 2012 Noviembre | 0 | 1 | 1 |
| 2012 Octubre | 2 | 2 | 4 |
| 2012 Agosto | 1 | 0 | 1 |
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