Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Caused by a Novel Mutation in EDAR Gene

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EBADI NADER; Javadi Sepehr; Salmani TayyebAli; MIRYOUNESI MOHAMMAD; YASSAEE VAHID REZA; GHAFOURI FARD SOUDEH

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Journal Paper

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Journal: Journal of Pediatric Perspectives Year:2018 | Volume:6 | Issue:1 (49) Page(s): 6899-6902

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Title

Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Caused by a Novel Mutation in EDAR Gene

Author(s)

Keywords

Ectodermal dysplasia

EDAR

Mutation

Abstract

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. Results 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. Conclusion We facilitated the effective genetic counseling and prenatal diagnosis in this family through detection of the disease causing Mutation.

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APA: Copy

EBADI, NADER, Javadi, Sepehr, Salmani, TayyebAli, MIRYOUNESI, MOHAMMAD, YASSAEE, VAHID REZA, & GHAFOURI FARD, SOUDEH. (2018). Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Caused by a Novel Mutation in EDAR Gene. INTERNATIONAL JOURNAL OF PEDIATRICS, 6(1 (49)), 6899-6902. SID. https://sid.ir/paper/337726/en

Vancouver: Copy

EBADI NADER, Javadi Sepehr, Salmani TayyebAli, MIRYOUNESI MOHAMMAD, YASSAEE VAHID REZA, GHAFOURI FARD SOUDEH. Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Caused by a Novel Mutation in EDAR Gene. INTERNATIONAL JOURNAL OF PEDIATRICS[Internet]. 2018;6(1 (49)):6899-6902. Available from: https://sid.ir/paper/337726/en

IEEE: Copy

NADER EBADI, Sepehr Javadi, TayyebAli Salmani, MOHAMMAD MIRYOUNESI, VAHID REZA YASSAEE, and SOUDEH GHAFOURI FARD, “Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Caused by a Novel Mutation in EDAR Gene,” INTERNATIONAL JOURNAL OF PEDIATRICS, vol. 6, no. 1 (49), pp. 6899–6902, 2018, [Online]. Available: https://sid.ir/paper/337726/en

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