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.
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; I., Sani; M., Maglione; S., Pensiero; G., Tadini; E., Bellacchio. - In: JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY. - ISSN 0926-9959. - 30:2(2016), pp. 341-343. [10.1111/jdv.12747]
A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family
GIGLIO, SABRINA RITA;
2016-01-01
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
