Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includesXIST and disrupts theEDA gene

2007 ◽  
Vol 143A (13) ◽  
pp. 1510-1513 ◽  
Author(s):  
Karen Helene Ørstavik ◽  
Gun Peggy S. Knudsen ◽  
Hilde Nordgarden ◽  
Eli Ormerod ◽  
Petter Strømme ◽  
...  
Keyword(s):  
Ectodermal Dysplasia ◽  
De Novo ◽  
Hypohidrotic Ectodermal Dysplasia

scholarly journals Α de novo 3.8-Mb inversion affecting the EDA and XIST genes in a heterozygous female calf with generalized hypohidrotic ectodermal dysplasia

BMC Genomics ◽  
2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Clémentine Escouflaire ◽  
Emmanuelle Rebours ◽  
Mathieu Charles ◽  
Sébastien Orellana ◽  
Margarita Cano ◽  
...  
Keyword(s):  
Ectodermal Dysplasia ◽  
De Novo ◽  
Genetic Disorder ◽  
Hair Follicles ◽  
Whole Genome Sequencing Data ◽  
Recessive Mutation ◽  
Sources Of Information ◽  
Affected Animal ◽  
Sequencing Data ◽  
Hypohidrotic Ectodermal Dysplasia

Abstract Background In mammals, hypohidrotic ectodermal dysplasia (HED) is a genetic disorder that is characterized by sparse hair, tooth abnormalities, and defects in cutaneous glands. Only four genes, EDA, EDAR, EDARADD and WNT10A account for more than 90% of HED cases, and EDA, on chromosome X, is involved in 50% of the cases. In this study, we explored an isolated case of a female Holstein calf with symptoms similar to HED. Results Clinical examination confirmed the diagnosis. The affected female showed homogeneous hypotrichosis and oligodontia as previously observed in bovine EDAR homozygous and EDA hemizygous mutants. Under light microscopy, the hair follicles were thinner and located higher in the dermis of the frontal skin in the affected animal than in the control. Moreover, the affected animal showed a five-fold increase in the number of hair follicles and a four-fold decrease in the diameter of the pilary canals. Pedigree analysis revealed that the coefficient of inbreeding of the affected calf (4.58%) was not higher than the average population inbreeding coefficient (4.59%). This animal had ten ancestors in its paternal and maternal lineages. By estimating the number of affected cases that would be expected if any of these common ancestors carried a recessive mutation, we concluded that, if they existed, other cases of HED should have been reported in France, which is not the case. Therefore, we assumed that the causal mutation was dominant and de novo. By analyzing whole-genome sequencing data, we identified a large chromosomal inversion with breakpoints located in the first introns of the EDA and XIST genes. Genotyping by PCR-electrophoresis the case and its parents allowed us to demonstrate the de novo origin of this inversion. Finally, using various sources of information we present a body of evidence that supports the hypothesis that this mutation is responsible for a skewed inactivation of X, and that only the normal X can be inactivated. Conclusions In this article, we report a unique case of X-linked HED affected Holstein female calf with an assumed full inactivation of the normal X-chromosome, thus leading to a severe phenotype similar to that of hemizygous males.

scholarly journals A novel de novo frame-shift mutation of the EDA gene in a Chinese Han family with hypohidrotic ectodermal dysplasia

2006 ◽  
Vol 51 (12) ◽  
pp. 1133-1137 ◽  
Author(s):  
Changzheng Huang ◽  
Qinbo Yang ◽  
Tie Ke ◽  
Haisheng Wang ◽  
Xu Wang ◽  
...  
Keyword(s):  
Ectodermal Dysplasia ◽  
De Novo ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Chinese Han ◽  
Frame Shift ◽  
Frame Shift Mutation ◽  
Eda Gene

scholarly journals A de Novo EDA-Variant in a Litter of Shorthaired Standard Dachshunds with X-Linked Hypohidrotic Ectodermal Dysplasia

2018 ◽  
Vol 9 (1) ◽  
pp. 95-104 ◽  
Author(s):  
Danae Vasiliadis ◽  
Marion Hewicker-Trautwein ◽  
Daniela Klotz ◽  
Michael Fehr ◽  
Stefka Ruseva ◽  
...  
Keyword(s):  
Ectodermal Dysplasia ◽  
De Novo ◽  
Hypohidrotic Ectodermal Dysplasia

scholarly journals Perinatal Autopsy Findings in a Case of De Novo Hypohidrotic Ectodermal Dysplasia

2015 ◽  
Vol 7 (02) ◽  
pp. 131-133
Author(s):  
Panduranga Chikkannaiah ◽  
Smitha Nagaraju ◽  
Rajit Kangle ◽  
Mansi Gosavi
Keyword(s):  
Ectodermal Dysplasia ◽  
De Novo ◽  
Sweat Glands ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Inherited Disorders ◽  
Developmental Defects ◽  
Female Fetus ◽  
Fetal Autopsy ◽  
Autopsy Findings ◽  
Perinatal Autopsy

ABSTRACTEctodermal dysplasia are group of inherited disorders involving the developmental defects of ectodermal structures like hair, teeth, nails, sweat glands, and others. X-linked recessive inheritance is most common. Here we describe perinatal autopsy findings in a case of de novo ectodermal dysplasia in a female fetus. To the best of our knowledge, this is the first fetal autopsy description in a case of ectodermal dysplasia.

scholarly journals Detection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia.

1994 ◽  
Vol 31 (4) ◽  
pp. 287-292 ◽  
Author(s):  
J Zonana ◽  
M Jones ◽  
A Clarke ◽  
J Gault ◽  
B Muller ◽  
...  
Keyword(s):  
Ectodermal Dysplasia ◽  
De Novo ◽  
De Novo Mutations ◽  
Hypohidrotic Ectodermal Dysplasia

scholarly journals A de novo EDA-variant in a litter of shorthaired standard Dachshunds with X-linked hypohidrotic ectodermal dysplasia

2018 ◽  
Author(s):  
Danae Vasiliadis ◽  
Marion Hewicker-Trautwein ◽  
Daniela Klotz ◽  
Michael Fehr ◽  
Stefka Ruseva ◽  
...  
Keyword(s):  
Ectodermal Dysplasia ◽  
De Novo ◽  
Family Members ◽  
Clinical Signs ◽  
Pedigree Analysis ◽  
Sweat Glands ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
First Case ◽  
Phenotype Description ◽  
Early Embryonic Stage

AbstractIn this study, we present a detailed phenotype description and genetic elucidation of the first case of X-linked hypohidrotic ectodermal dysplasia in the shorthaired standard Dachshund. This condition is characterized by partial alopecia, missing and malformed teeth and a lack of eccrine sweat glands. Clinical signs including dental X-raying and histopathological findings were consistent with an ectodermal dysplasia. Pedigree analysis supported an X-recessive mode of inheritance. Whole-genome sequencing of one affected puppy and his dam identified a 1-basepair deletion within the ectodysplasin-A gene (CM000039.3:g.54509504delT, PRJEB27789). Sanger sequencing of further family members confirmed the PRJEB27789-variant. Validation in all available family members, 37 unrelated shorthaired standard Dachshunds, 128 Dachshunds from all other breeds and samples from 34 dog breeds revealed the PRJEB27789 variant to be private for this family. Two heterozygous females showed very mild alopecia but normal dentition. Since the dam is demonstrably the only heterozygous animal in the ancestry of the affected animals, we assume that the PRJEB27789-variant arose in the germline of the granddam or in an early embryonic stage of the dam. In conclusion, we detected a very recent de-novo EDA mutation causing X-linked hypohidrotic ectodermal dysplasia in the shorthaired standard Dachshund.

Mutation in the ED1 Gene, Ala349Thr, in a Korean Patient with X-Linked Hypohidrotic Ectodermal Dysplasia Developing de novo

2004 ◽  
Vol 21 (5) ◽  
pp. 568-572 ◽  
Author(s):  
Gun Yoen Na ◽  
Do Won Kim ◽  
Seok Jong Lee ◽  
Sang Lip Chung ◽  
Dong Jae Park ◽  
...  
Keyword(s):  
Ectodermal Dysplasia ◽  
De Novo ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Korean Patient

A rare cause of fever of unknown origin: hypohidrotic ectodermal dysplasia with a splice site mutation

2018 ◽  
Vol 70 (5) ◽  
Author(s):  
Melahat M. Oguz ◽  
Meltem Akcaboy ◽  
Asuman Gurkan ◽  
Esma Altinel Acoglu ◽  
Pelin Zorlu ◽  
...  
Keyword(s):  
Splice Site ◽  
Fever Of Unknown Origin ◽  
Ectodermal Dysplasia ◽  
Splice Site Mutation ◽  
Unknown Origin ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Site Mutation
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