A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family

M. Callea;P. Nieminen;C. E. Willoughby;G. Clarich;I. Yavuz;A. Vinciguerra;M. Di Stazio;GIGLIO, SABRINA RITA

Methodology

;I. Sani;M. Maglione;S. Pensiero;G. Tadini;E. Bellacchio

2016-01-01

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Abstract

X-Linked Hypohidrotic Ectodermal Dysplasia (XL-HED; MIM305100) is characterized by hypodontia, misshaped teeth, hypo-hidrosis, sparse hair, peculiar facial features and occurs in less than 1 in every 100.000 individuals. XL-HED is caused by mutations in the Ectodysplasin-A (EDA) gene located at Xq12-q13 with more than 100 causative mutations reported to date. The identification of disease-causing mutations confirms the diagnosis, however, does not automatically imply a genotype–phenotype correlation. We identified an Italian family with XL-HED resulting from a novel mutation.