Backgrounds: Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder, distinguished by hypotrichosis, hypohidrosis, and hypodontia. HDE can be inherited in X-linked recessive manner as a result of mutations in the ectodysplasin A (EDA) gene as well as autosomal dominant and autosomal recessive manners both of them caused by mutations in EDA receptor (EDAR) and EDAR-associated death domain (EDARADD) genes. Findings: In this report, we investigated a consanguineous Iranian family with autosomal recessive form of HED. A homozygous missense mutation was detected in exon 1 of EDAR gene in the proband (c.278C>G) resulting in p.C93S that alters the sequence of the EDAR protein. Conclusions: We facilitated the effective genetic counseling and prenatal diagnosis in this family through detection of the disease causing mutation.
Ebadi, N. , Javadi, S. , Salmani, T. , Miryounesi, M. , Yassaee, V. R. and Ghafouri-Fard, S. (2018). Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Caused by a Novel Mutation in EDAR Gene. Journal of Pediatric Perspectives, 6(1), 6899-6902. doi: 10.22038/ijp.2017.28529.2480
MLA
Ebadi, N. , , Javadi, S. , , Salmani, T. , , Miryounesi, M. , , Yassaee, V. R. , and Ghafouri-Fard, S. . "Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Caused by a Novel Mutation in EDAR Gene", Journal of Pediatric Perspectives, 6, 1, 2018, 6899-6902. doi: 10.22038/ijp.2017.28529.2480
HARVARD
Ebadi, N., Javadi, S., Salmani, T., Miryounesi, M., Yassaee, V. R., Ghafouri-Fard, S. (2018). 'Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Caused by a Novel Mutation in EDAR Gene', Journal of Pediatric Perspectives, 6(1), pp. 6899-6902. doi: 10.22038/ijp.2017.28529.2480
CHICAGO
N. Ebadi , S. Javadi , T. Salmani , M. Miryounesi , V. R. Yassaee and S. Ghafouri-Fard, "Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Caused by a Novel Mutation in EDAR Gene," Journal of Pediatric Perspectives, 6 1 (2018): 6899-6902, doi: 10.22038/ijp.2017.28529.2480
VANCOUVER
Ebadi, N., Javadi, S., Salmani, T., Miryounesi, M., Yassaee, V. R., Ghafouri-Fard, S. Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Caused by a Novel Mutation in EDAR Gene. Journal of Pediatric Perspectives, 2018; 6(1): 6899-6902. doi: 10.22038/ijp.2017.28529.2480
)