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Vol. 102. Issue 9.
Pages 722-725 (November 2011)
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Vol. 102. Issue 9.
Pages 722-725 (November 2011)
Caso Clínico
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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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J. Cañuetoa,
Corresponding author
jcanueto@yahoo.es

Corresponding author.
, M.I. Zafra-Coboa, S. Ciriab, P. Unamunoa, R. González-Sarmientob,c
a Servicio de Dermatología, Hospital Universitario de Salamanca, Salamanca, Spain
b Unidad de Medicina Molecular, Departamento de Medicina, Universidad de Salamanca, Campus Miguel de Unamuno, Salamanca, Spain
c IBMCC, Universidad de Salamanca-CSIC, Campus Miguel de Unamuno, Salamanca, Spain
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Abstract

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 EDA 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 EDA 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.

Keywords:
X-linked hypohidrotic ectodermal dysplasia
EDA
Novel mutations
Resumen

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 EDA, 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 EDA. 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.

Palabras clave:
Displasia ectodérmica hipohidrótica ligada al cromosoma X
EDA
Mutación nueva
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Copyright © 2010. Elsevier España, S.L. and AEDV
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