A novel mutation in theEDARgene causes severe autosomal recessive hypohidrotic ectodermal dysplasia

2014 ◽  
Vol 164 (8) ◽  
pp. 2059-2061 ◽  
Author(s):  
Emil Henningsen ◽  
Mathias Tiedemann Svendsen ◽  
Dorte Launholt Lildballe ◽  
Peter Kjestrup Axel Jensen
Keyword(s):  
Autosomal Recessive ◽  
Ectodermal Dysplasia ◽  
Novel Mutation ◽  
Hypohidrotic Ectodermal Dysplasia

Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in theEDARgene

2008 ◽  
Vol 146A (20) ◽  
pp. 2657-2662 ◽  
Author(s):  
Hala Mégarbané ◽  
Céline Cluzeau ◽  
Christine Bodemer ◽  
Sylvie Fraïtag ◽  
Myrna Chababi-Atallah ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Ectodermal Dysplasia ◽  
Novel Mutation ◽  
Unusual Presentation

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.

Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia

2009 ◽  
Vol 301 (8) ◽  
pp. 625-629 ◽  
Author(s):  
Zahid Azeem ◽  
Syed Kamran-Ul-Hassan Naqvi ◽  
Muhammad Ansar ◽  
Abdul Wali ◽  
Abdul Khaliq Naveed ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Ectodermal Dysplasia ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Recurrent Mutations

scholarly journals A novel mutation in the bovine <i>EDA</i> gene causing anhidrotic ectodermal dysplasia (Brief report)

2006 ◽  
Vol 49 (6) ◽  
pp. 615-616 ◽  
Author(s):  
C. Drögemüller ◽  
C. S. Barlund ◽  
C. W. Palmer ◽  
T. Leeb
Keyword(s):  
Ectodermal Dysplasia ◽  
Novel Mutation ◽  
Transmembrane Protein ◽  
Deleterious Mutations ◽  
Mouse Mutant ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Eccrine Glands ◽  
Anhidrotic Ectodermal Dysplasia ◽  
Necrosis Factor ◽  
Eda Gene

Abstract. X-linked anhidrotic ectodermal dysplasia (EDA), also called hypohidrotic ectodermal dysplasia (HED), represents a group of similar phenotypes described in humans, the tabby mouse mutant, dog, and cattle (KERE et al., 1996; SRIVASTAVA et al., 1997; CASAL et al., 2005; DRÖGEMÜLLER et al., 2001, 2002). EDA is characterised by the hypoplasia or absence of hair and eccrine glands in addition to dental abnormalities. Ectodysplasin A1 and A2, the two isoforms encoded by the EDA gene, are transmembrane protein members of the tumor necrosis factor (TNF) family and deleterious mutations in the human, murine, canine, and bovine EDA gene, respectively, result in manifestations of EDA.

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