Phenotypic and genotypic characterisation of hypohydrotic ectodermal dysplasia in Spanish population (Q3177835): Difference between revisions

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(‎Changed label, description and/or aliases in en: translated_label)
(‎Removed 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,...)
Property / summary
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)
 
Property / summary: 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) / rank
Normal rank
 
Property / summary: 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) / qualifier
point in time: 12 October 2021
Timestamp+2021-10-12T00:00:00Z
Timezone+00:00
CalendarGregorian
Precision1 day
Before0
After0
 

Revision as of 19:23, 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

    contained in NUTS
    Murcia
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    country
    Spain
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    EU contribution
    31,760.0 Euro
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    budget
    39,700.0 Euro
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    co-financing rate
    80.0 percent
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    start time
    1 January 2015
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    end time
    31 March 2019
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    beneficiary name (string)
    FUNDACION PARA LA FORMACION E INVESTIGACION SANITARIAS DE LA REGION DE MURCIA (FFIS)
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    beneficiary
    Q3136857
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    coordinate location

    37°59'32.57"N, 1°7'49.94"W
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    postal code
    30030
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    summary
    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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    location (string)
    Murcia
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    Identifiers

    Spanish Kohesio ID
    PI14_01259
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