Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families

Hypohidrotic or anhidrotic ectodermal dysplasia (HED/EDA) is characterized by impaired development of the hair, teeth, or sweat glands. HED/EDA is inherited in an X-linked, autosomal dominant, or autosomal recessive pattern and caused by the pathogenic variants in 4 genes: EDA, EDAR, EDARADD, and WNT10A. The aim of the present study was to perform molecular screening of these 4 genes in a cohort of Turkish individuals diagnosed with HED/EDA. We screened for pathogenic variants of WNT10A, EDA, EDAR, and EDARADD through Sanger sequencing. We further assessed the clinical profiles of the affected individuals in order to establish phenotype-genotype correlation. In 17 (63%) out of 27 families, 17 pathogenic variants, 8 being novel, were detected in the 4 well-known ectodermal dysplasia genes. EDAR and EDA variants were identified in 6 families each, WNT10A variants in 4, and an EDARADD variant in 1, accounting for 35.3, 35.3, 23.5, and 5.9% of mutation-positive families, respectively. The low mutation detection rate of the cohort and the number of the EDAR pathogenic variants being as high as the EDA ones were the most noteworthy findings which could be attributed to the high consanguinity rate.

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Hereditary Anhidrotic Ectodermal Dysplasia - A case report

Anwer Khan Modern Medical College Journal ◽

10.3329/akmmcj.v5i1.18845 ◽

2014 ◽

Vol 5 (1) ◽

pp. 51-53

Author(s):

Mumtahina Setu ◽

Syed Khairul Amin ◽

Kuntol Roy ◽

SM Nahid Morshed

Keyword(s):

Autosomal Recessive ◽

Ectodermal Dysplasia ◽

Genetic Disorder ◽

Autosomal Recessive Inheritance ◽

Sweat Glands ◽

Recessive Inheritance ◽

Nail Dystrophy ◽

Medical College ◽

Palmoplantar Hyperkeratosis ◽

Anhidrotic Ectodermal Dysplasia

Ectodermal dysplasia is a hereditary disorder that occurs as a consequence of disturbances in the ectoderm of the developing embryo. The triad of nail dystrophy, alopecia or hypotrichosis and palmoplantar hyperkeratosis is usually accompanied by a lack of sweat glands and a partial or complete absence of primary and/or permanent dentition. Ectodermal dysplasia is a rare genetic disorder and X-linked recessive inheritance is most commonly seen. But we are reporting a rare case of autosomal recessive inheritance of Ectodermal dysplasia in here. DOI: http://dx.doi.org/10.3329/akmmcj.v5i1.18845 Anwer Khan Modern Medical College Journal Vol. 5, No. 1: January 2014, Pages 51-53

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Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis

Blood ◽

10.1182/blood.v100.2.692 ◽

2002 ◽

Vol 100 (2) ◽

pp. 692-694 ◽

Cited By ~ 113

Author(s):

Daniel F. Wallace ◽

Palle Pedersen ◽

Jeannette L. Dixon ◽

Peter Stephenson ◽

Jeffrey W. Searle ◽

...

Keyword(s):

Iron Transport ◽

Autosomal Recessive ◽

Iron Homeostasis ◽

Autosomal Dominant ◽

Novel Mutation ◽

Hfe Gene ◽

Excess Iron ◽

Chromosome 1Q ◽

Australian Family ◽

Autosomal Recessive Pattern

Abstract Hemochromatosis is a common disorder characterized by excess iron absorption and accumulation of iron in tissues. Usually hemochromatosis is inherited in an autosomal recessive pattern and is caused by mutations in the HFE gene. Less common non-HFE–related forms of hemochromatosis have been reported and are caused by mutations in the transferrin receptor 2 gene and in a gene localized to chromosome 1q. Autosomal dominant forms of hemochromatosis have also been described. Recently, 2 mutations in theferroportin1 gene, which encodes the iron transport protein ferroportin1, have been implicated in families with autosomal dominant hemochromatosis from the Netherlands and Italy. We report the finding of a novel mutation (V162del) in ferroportin1 in an Australian family with autosomal dominant hemochromatosis. We propose that this mutation disrupts the function of the ferroportin1 protein, leading to impaired iron homeostasis and iron overload.

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Novel COL11A2 Pathogenic Variants in a Child with Autosomal Recessive Otospondylomegaepiphyseal Dysplasia: A Review of the Literature

Journal of Pediatric Genetics ◽

10.1055/s-0039-1698446 ◽

2019 ◽

Vol 09 (02) ◽

pp. 117-120

Author(s):

Pavalan Selvam ◽

Shekhar Singh ◽

Angita Jain ◽

Herjot Atwal ◽

Paldeep S. Atwal

Keyword(s):

Sequence Analysis ◽

Autosomal Recessive ◽

Autosomal Dominant ◽

Review Of The Literature ◽

Pathogenic Variants ◽

Phenotypic Spectrum ◽

Whole Exome ◽

The Family ◽

Type Xi Collagen ◽

Exome Sequence

AbstractOtospondylomegaepiphyseal dysplasia (OSMED) is an inherited autosomal dominant and recessive skeletal dysplasia caused by both heterozygous and homozygous pathogenic variants in COL11A2 encoding the α2(XI) collagen chains, a part of type XI collagen. Here, we describe a 2-year-old girl presenting from birth with a phenotype suggestive of OSMED. On whole exome sequence analysis of the family via commercially available methods, we detected two novel heterozygous pathogenic variants in the proband. In addition, we reviewed the phenotype of autosomal recessive OSMED cases with COL11A2 pathogenic variants reported to date and quantitatively highlighted the phenotypic spectrum.

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Anhidrotic ectodermal dysplasia as autosomal recessive trait in an inbred kindred

Human Genetics ◽

10.1007/bf00291298 ◽

1966 ◽

Vol 3 (2) ◽

pp. 181-185 ◽

Cited By ~ 18

Author(s):

Eberhard Passarge ◽

C. Thomas Nuzum ◽

William K. Schubert

Keyword(s):

Autosomal Recessive ◽

Ectodermal Dysplasia ◽

Recessive Trait ◽

Autosomal Recessive Trait ◽

Anhidrotic Ectodermal Dysplasia

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Treatment strategy for patients with ectodermal dysplasia

Journal of Clinical Pediatric Dentistry ◽

10.17796/jcpd.29.2.581h744407r055r3 ◽

2005 ◽

Vol 29 (2) ◽

pp. 113-118 ◽

Cited By ~ 3

Author(s):

Jack W. Martin ◽

Nicholas Tselios ◽

Mark S. Chambers

Keyword(s):

Ectodermal Dysplasia ◽

Treatment Plan ◽

Abnormal Development ◽

Sweat Glands ◽

Clinical Report ◽

Stomatognathic System ◽

Ectodermal Dysplasias ◽

Different Types ◽

Anhidrotic Ectodermal Dysplasia ◽

Hereditary Condition

Ectodermal dysplasia (ED) is a hereditary condition characterized by abnormal development of the skin, hair, nails, sweat glands, and the stomatognathic system. There are many different types of ectodermal dysplasia of which X-linked anhidrotic ectodermal dysplasia is the most common. Multiple genes have been discovered to cause ectodermal dysplasias. With any form of ED, children may display a range of symptoms and challenging rehabilitation. This clinical report presents the treatment plan for a young patient with ED and anodontia requiring prosthetic restoration. J Clin Pediatr Dent 29(2): 113-118,2005

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Anhydrotic Ectodermal Dysplasia – A Cause of Prolonged Fever in Infant

ARS Medica Tomitana ◽

10.2478/arsm-2020-0012 ◽

2020 ◽

Vol 26 (2) ◽

pp. 58-62

Author(s):

Mihai Larisia ◽

Cuzic Viviana ◽

Pantazi Cosmin ◽

Ungureanu Adina ◽

Frecus Corina ◽

...

Keyword(s):

Body Temperature ◽

Ectodermal Dysplasia ◽

The Body ◽

Abnormal Development ◽

Sweat Glands ◽

High Body ◽

Prolonged Fever ◽

Heterogenous Group ◽

Diagnostic Difficulties ◽

Anhidrotic Ectodermal Dysplasia

Abstract Ectodermal dysplasia is a group of conditions characterized by abnormal development of ectodermal tissues including the skin, hair, teeth and sweat glands. Anhidrotic ectodermal dysplasia (Christ-Siemens-Touraine Syndrome) is only one of this large and heterogenous group, but is the most frequent. An inability to sweat (anhidrosis) can lead to high body temperature (hyperthermia), because the body cannot cool itself by evaporating sweat. The authors present the diagnostic difficulties in an infant with this condition, in which prolonged fever was the dominant symptom.

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Familial achalasia with an autosomal dominant pattern of inherence: Report of a Vietnamese family

MedPharmRes ◽

10.32895/ump.mpr.3.2.5 ◽

2019 ◽

Vol 3 (2) ◽

pp. 25-28

Author(s):

Trong Duc Quach ◽

Yuji Urabe ◽

Toru Hiyama

Keyword(s):

Genetic Predisposition ◽

Autosomal Recessive ◽

Autosomal Dominant ◽

Case Reports ◽

Autosomal Dominant Pattern ◽

Three Generations ◽

Dominant Pattern ◽

Autosomal Recessive Pattern

Current pathophysiologic knowledge of achalasia suggests the important involvement of genetic predisposition. However, familial achalasia is very rare and most of the case reports in literature have shown an autosomal recessive pattern of inherence. We hereby report a case of familial achalasia with autosomal dominant pattern of inherence affecting ten members in three generations of a Vietnamese family.

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Anhidrotic Ectodermal Dysplasia with Immunodeficiency (EDA-ID), Autosomal-Dominant

Encyclopedia of Medical Immunology ◽

10.1007/978-1-4614-8678-7_45 ◽

2020 ◽

pp. 14-16

Author(s):

Jacob Rozmus

Keyword(s):

Autosomal Dominant ◽

Ectodermal Dysplasia ◽

Anhidrotic Ectodermal Dysplasia

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Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA

Neuropediatrics ◽

10.1055/s-0040-1701671 ◽

2020 ◽

Vol 51 (04) ◽

pp. 245-250

Author(s):

Chloé Angelini ◽

Marie Thibaud ◽

Nathalie Aladjidi ◽

Pierre Bessou ◽

Sébastien Cabasson ◽

...

Keyword(s):

Autosomal Recessive ◽

Autosomal Dominant ◽

De Novo ◽

Cutis Laxa ◽

Variable Degree ◽

Severe Phenotype ◽

Pathogenic Variants ◽

Type Iiia ◽

Recessive Type ◽

Neurological Phenotype

AbstractCutis laxa is a heterogeneous group of diseases, characterized by abundant and wrinkled skin and a variable degree of intellectual disability. Cutis laxa, autosomal recessive, type IIIA and autosomal dominant 3 syndromes are caused by autosomal recessive or de novo pathogenic variants in ALDH18A1. Autosomal recessive variants are known to lead to the most severe neurological phenotype, and very few patients have been described.We describe a 13-month-old patient with cutis laxa, autosomal recessive, type IIIA, with an extremely severe phenotype, including novel neurological findings. This description enlarges the neurological spectrum associated to cutis laxa, autosomal recessive, type IIIA, and provides an additional description of this syndrome.

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