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.

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 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

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 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

Persistent nasal crusting due to hypohidrotic ectodermal dysplasia

1996 ◽  
Vol 110 (4) ◽  
pp. 379-382 ◽  
Author(s):  
A. H. Al-Jassim ◽  
A. C. Swift
Keyword(s):  
Respiratory Tract ◽  
Ectodermal Dysplasia ◽  
Sweat Glands ◽  
Specific Reference ◽  
Nasal Discharge ◽  
Upper Respiratory Tract ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Sparse Hair ◽  
Tract Infections ◽  
Clinical Awareness

AbstractHypohidrotic ectodermal dysplasia is an hereditary condition of the ectodermal tissues which may escape recognition because of lack of clinical awareness due to its rarity. Otorhinolaryngological features of this syndrome include chronic respiratory tract infections, persistent foul-smelling nasal discharge and crust formation, and hearing problems.The condition is usually an X-linked recessive disease affecting mainly ectodermal tissue, although nonectodermal tissue may also be affected. The notation ‘ectodermal’ is used because ectodermal tissues are always involved. The syndrome is characterized by complete or partial absence of sweat glands, sparse hair growth, absent or deformed peg teeth, sparse sebaceous glands, occasional absence of salivary and lacrimal glands, scanty mucous glands and deficient cilia.We describe two children with this disorder with specific reference to the effect on the upper respiratory tract.

Should We Consider Hypohidrotic Ectodermal Dysplasia as a Possible Risk Factor for Malignant Melanoma?

2007 ◽  
Vol 11 (5) ◽  
pp. 188-190 ◽  
Author(s):  
Stamatis Gregoriou ◽  
Dimitris Rigopoulos ◽  
Theognosia Vergou ◽  
Chrysovalantis Korfitis ◽  
George Menegakis ◽  
...  
Keyword(s):  
Malignant Melanoma ◽  
Ectodermal Dysplasia ◽  
Case Reports ◽  
Epidemiologic Study ◽  
Sweat Glands ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Multisystem Disorder ◽  
Pigmented Lesions ◽  
Ectodermal Dysplasias

Background: Hypohidrotic ectodermal dysplasia (HED) is a rare multisystem disorder that typically affects hair, teeth, nails, and sweat glands in combination with abnormalities of ectodermal originated tissues. Objective: To raise the issue of whether heightened awareness is required in the follow-up of pigmented lesions in patients with HED. Methods/Results: Two patients with HED are reported. The first had a history of two malignant melanomas, whereas the second presented with a novel malignant melanoma. Conclusion: Although a prospective epidemiologic study to determine the incidence of malignant melanoma in patients with HED is virtually impossible and the probable pathogenesis warrants further investigation, these two case reports, in conjunction with other recent reports associating other ectodermal dysplasias with malignant melanoma, suggest that heightened awareness might be prudent in the follow-up of pigmented lesions in patients with HED.

scholarly journals Hair and Sweat Glands in Families With Hypohidrotic Ectodermal Dysplasia

2004 ◽  
Vol 140 (7) ◽  
Author(s):  
Christopher Rouse ◽  
Elaine Siegfried ◽  
Wayne Breer ◽  
George Nahass
Keyword(s):  
Ectodermal Dysplasia ◽  
Sweat Glands ◽  
Hypohidrotic Ectodermal Dysplasia

scholarly journals Coexistence of antithrombin deficiency and suspected inferior vena cava atresia in an adolescent and his mother – case report and clinical implications

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
M. Müller-Knapp ◽  
C. F. Classen ◽  
R. Knöfler ◽  
C. Spang ◽  
C. Hauenstein ◽  
...  
Keyword(s):  
Case Report ◽  
Inferior Vena Cava ◽  
Inferior Vena ◽  
Family Members ◽  
Vena Cava ◽  
Clinical Signs ◽  
Lower Extremities ◽  
Ultrasound Screening ◽  
Antithrombin Deficiency ◽  
First Case

Abstract Background Antithrombin deficiency (ATD) is an autosomal dominant thrombophilia presenting with varying phenotypes. In pediatric patients with ATD, thrombosis typically develops during the neonatal period or adolescence. However, to date there are no consistent recommendations on the therapeutic management of children with ATD. Inferior vena cava atresia (IVCA) belongs to a range of congenital or acquired vena cava malformations and is described as an independent risk factor for thrombosis. The present case report explores two cases of combined ATD and IVCA in an adolescent and his mother. Case presentation A 14-year-old male presented with extensive deep venous thromboses (DVTs) of both lower extremities as well as an IVCA. The patient had previously been diagnosed with an asymptomatic ATD without therapeutic consequences at that time. His mother was suffering from an ATD and had herself just been diagnosed with IVCA, too. The DVTs in the adolescent were treated by systemic anticoagulation and catheter-directed local thrombolysis causing favourable results. Yet, despite adequate oral anticoagulation the DVTs in both lower extremities reoccurred within 1 week after the patient was discharged from hospital. This time, thrombolysis could not be fully achieved. Surprisingly, probing and stenting of the IVCA was achieved, indicating an acquired IVCA which could have occurred after undetected thrombosis in early childhood. Genetic analyses showed the same mutation causing ATD in both son and mother: heterozygote missense mutation c.248 T > C, p.(Leu83Pro), within the heparin binding domain of antithrombin. This mutation was never reported in mutation databases before. Conclusions To our knowledge this is the first case report discussing combined ATD and IVCA in two family members. Since ATDs present with clinical heterogeneity, taking a thorough family history is crucial for the anticipation of possible complications in affected children and decisions on targeted diagnostics and therapeutic interventions. Affected families must be educated on risk factors and clinical signs of thrombosis and need an immediate diagnostic workup in case of clinical symptoms. IVCA in patients with ATD could occur due to thrombotic occlusion at a very early age. Therefore, in case of family members with IVCA and ATD ultrasound screening in newborns should be considered.

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
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