Alopecia areata in Hypohidrotic Ectodermal Dysplasia (HED) with Ectodysplasin A Receptor (EDAR) gene mutation

2011 ◽  
Vol 3 (2) ◽  
Author(s):  
Niti Gaur ◽  
Ram Tainwala ◽  
YK Sharma
Keyword(s):  
Gene Mutation ◽  
Alopecia Areata ◽  
Ectodermal Dysplasia ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Edar Gene

X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation

2017 ◽  
Vol 152 (3) ◽  
pp. 111-116 ◽  
Author(s):  
Salvatore Savasta ◽  
Giorgia Carlone ◽  
Riccardo Castagnoli ◽  
Francesca Chiappe ◽  
Francesco Bassanese ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Ectodermal Dysplasia ◽  
Novel Mutation ◽  
Nucleotide Position ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Nasal Bridge ◽  
Mutation Database ◽  
Exon 1 ◽  
Male Karyotype ◽  
Eda Gene

We described a 5-year-old male with hypodontia, hypohidrosis, and facial dysmorphisms characterized by a depressed nasal bridge, maxillary hypoplasia, and protuberant lips. Chromosomal analysis revealed a normal 46,XY male karyotype. Due to the presence of clinical features of hypohidrotic ectodermal dysplasia (HED), the EDA gene, located at Xq12q13.1, of the patient and his family was sequenced. Analysis of the proband's sequence revealed a missense mutation (T to A transversion) in hemizygosity state at nucleotide position 158 in exon 1 of the EDA gene, which changes codon 53 from leucine to histidine, while heterozygosity at this position was detected in the slightly affected mother; moreover, this mutation was not found in the publically available Human Gene Mutation Database. To date, our findings indicate that a novel mutation in EDA is associated with X-linked HED, adding it to the repertoire of EDA mutations.

A novel EDA gene mutation in a Spanish family with X-linked hypohidrotic ectodermal dysplasia

2011 ◽  
Vol 102 (9) ◽  
pp. 722-725
Author(s):  
J. Cañueto ◽  
M.I. Zafra-Cobo ◽  
S. Ciria ◽  
P. Unamuno ◽  
R. González-Sarmiento
Keyword(s):  
Gene Mutation ◽  
Ectodermal Dysplasia ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Spanish Family ◽  
Eda Gene

A novel EDA gene mutation in a Spanish family with X-linked hypohidrotic ectodermal dysplasia

2011 ◽  
Vol 102 (9) ◽  
pp. 722-725 ◽  
Author(s):  
J. Cañueto ◽  
M.I. Zafra-Cobo ◽  
S. Ciria ◽  
P. Unamuno ◽  
R. González-Sarmiento
Keyword(s):  
Gene Mutation ◽  
Ectodermal Dysplasia ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Spanish Family ◽  
Eda Gene

A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID)

2010 ◽  
Vol 169 (11) ◽  
pp. 1403-1407 ◽  
Author(s):  
Catherine M. L. Roberts ◽  
Janet E. Angus ◽  
Ian H. Leach ◽  
Elizabeth M. McDermott ◽  
David A. Walker ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Ectodermal Dysplasia ◽  
Hypohidrotic Ectodermal Dysplasia

scholarly journals A Rare Case of Hypohidrotic Ectodermal Dysplasia Caused by Compound Heterozygous Mutations in the EDAR Gene

2004 ◽  
Vol 123 (4) ◽  
pp. 649-655 ◽  
Author(s):  
Yutaka Shimomura ◽  
Nobuyuki Sato ◽  
Akinori Miyashita ◽  
Tsuyoshi Hashimoto ◽  
Masaaki Ito ◽  
...  
Keyword(s):  
Rare Case ◽  
Ectodermal Dysplasia ◽  
Compound Heterozygous ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Compound Heterozygous Mutations ◽  
Edar Gene

The EDAR370A allele attenuates the severity of hypohidrotic ectodermal dysplasia caused by EDA gene mutation

2011 ◽  
Vol 166 (3) ◽  
pp. 678-681 ◽  
Author(s):  
C. Cluzeau ◽  
S. Hadj-Rabia ◽  
E. Bal ◽  
F. Clauss ◽  
A. Munnich ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Ectodermal Dysplasia ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Eda Gene
Sign in / Sign up

Export Citation Format

Share Document