Phenotypic and genotypic characterisation of hypohydrotic ectodermal dysplasia in Spanish population (Q3177835): Difference between revisions
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(Created claim: summary (P836): Hypohydrotic ectodermal dysplasia (HDE) is a genetic disorder of the development of the ectoderm characterised by the malformation of ectodermal structures (skin, hair, teeth and sweat glands) that is mainly due to mutations in the genes of the ectodysplasin/NF-?B pathway. Its most relevant feature is the decrease of the sweat glands, accompanied by alterations of hair, teeth, nails and facial dysmorphy. The main genes involved are EDA, UWWW, WN...) |
(Changed label, description and/or aliases in en: translated_label) |
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Phenotypic and genotypic characterisation of hypohydrotic ectodermal dysplasia in Spanish population | |||
Revision as of 18:59, 12 October 2021
Project Q3177835 in Spain
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Phenotypic and genotypic characterisation of hypohydrotic ectodermal dysplasia in Spanish population |
Project Q3177835 in Spain |
Statements
31,760.0 Euro
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39,700.0 Euro
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80.0 percent
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1 January 2015
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31 March 2019
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FUNDACION PARA LA FORMACION E INVESTIGACION SANITARIAS DE LA REGION DE MURCIA (FFIS)
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37°59'32.57"N, 1°7'49.94"W
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30030
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La displasia ectodérmica hipohidrótica (DEH) es un trastorno genético del desarrollo del ectodermo caracterizado por la malformación de estructuras ectodérmicas (piel, pelo, dientes y glándulas sudoríparas) que se debe principalmente a mutaciones en los genes de la vía ectodisplasina/NF-?B. Su característica más relevante es la disminución de las glándulas sudoríparas, acompañada de alteraciones de pelo, dientes, uñas y dismorfia facial. Los principales genes implicados son EDA, EDAR, WNT10A y EDARADD, que se encuentran alterados en el 90% de los casos de DEH. Los objetivos de este estudio son: la caracterización fenotípica de la DEH en nuestro país, identificación del espectro mutacional en los 4 principales genes implicados y establecimiento de la correlación fenotipo/genotipo con el fin de elaborar un algoritmo de diagnóstico molecular basado en los hallazgos clínicos. Se pretende la inclusión en el estudio de al menos 100 individuos con DEH y sus familiares afectos de primera línea. En primer lugar, los pacientes serán entrevistados y examinados para obtener las variables clínicas relevantes para el diagnóstico y caracterizar esta enfermedad. Adicionalmente se realizarán estudios moleculares (secuenciación y MLPA) para detección de mutaciones responsables de DEH en los genes anteriormente mencionados. La caracterización clínica y molecular de la DEH supondrá un avance en el conocimiento de la situación actual de la enfermedad en nuestro país y permitirá el desarrollo de un algoritmo de diagnóstico molecular eficiente aplicable en nuestro servicio nacional de salud. (Spanish)
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Hypohydrotic ectodermal dysplasia (HDE) is a genetic disorder of the development of the ectoderm characterised by the malformation of ectodermal structures (skin, hair, teeth and sweat glands) that is mainly due to mutations in the genes of the ectodysplasin/NF-?B pathway. Its most relevant feature is the decrease of the sweat glands, accompanied by alterations of hair, teeth, nails and facial dysmorphy. The main genes involved are EDA, UWWW, WNT10A and EDARADD, which are altered in 90 % of HRD cases. The objectives of this study are: phenotypic characterisation of DEH in our country, identification of the mutational spectrum in the 4 main genes involved and establishment of phenotype/genotype correlation in order to develop a molecular diagnostic algorithm based on clinical findings. It is intended to include in the study at least 100 individuals with HRD and their relatives with first-line affections. First, patients will be interviewed and examined to obtain the clinical variables relevant to the diagnosis and characterise this disease. In addition, molecular studies (sequencing and MLPA) will be carried out to detect mutations responsible for DEH in the above-mentioned genes. The clinical and molecular characterisation of DEH will be an advance in the knowledge of the current situation of the disease in our country and will allow the development of an efficient molecular diagnostic algorithm applicable in our national health service. (English)
12 October 2021
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Murcia
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Identifiers
PI14_01259
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