Related Experiment Video

Updated: Sep 21, 2025

Assessing Signaling Properties of Ectodermal Epithelia During Craniofacial Development
09:25

Assessing Signaling Properties of Ectodermal Epithelia During Craniofacial Development

Published on: March 24, 2011

9.6K

Clinical and Genetic Characteristics of Ectodermal Dysplasia in Four Indian Children

Divya Kamat1, Rahul Mahajan1, Debajyoti Chatterjee2

  • 1Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Indian Journal of Dermatology
|June 3, 2022
PubMed

Insights

This study analyzes four patients with ectodermal dysplasias (EDs), identifying genetic mutations linked to hypohidrotic ectodermal dysplasia (HED) and autoimmune polyglandular syndrome (APS) type 1. The findings highlight clinic-genetic correlations and novel variants in ED.

Area of Science:

  • Genetics
  • Dermatology
  • Endocrinology

Background:

  • Ectodermal dysplasias (EDs) are a group of genetic disorders affecting ectodermal derivatives like skin, hair, nails, and teeth.
  • Next-generation sequencing (NGS) is crucial for diagnosing EDs by identifying causative genetic variants.

Observation:

  • Four patients with diverse ectodermal dysplasia phenotypes were analyzed using NGS.
  • Three patients presented with hypohidrotic ectodermal dysplasia (HED), and one with autoimmune polyglandular syndrome (APS) type 1.
  • Specific mutations were identified in the EDA, C1orf172, and AIRE genes, including novel variants.

Findings:

  • Two patients with X-linked HED (XLHED) harbored known mutations in the EDA gene.
  • A novel mutation in C1orf172 was identified in a patient with HED and urticaria pigmentosa.
  • A patient with APS type 1 and ectodermal features presented with compound heterozygous mutations in the AIRE gene.

Implications:

  • This study establishes clinic-genetic correlations in ED patients, aiding diagnosis and genetic counseling.
  • The identification of novel variants expands the known mutational spectrum for EDs.
  • Understanding these genetic underpinnings is vital for targeted therapies and improved patient outcomes.
Abstract

Keywords:
Ectodermal dysplasianext-generation sequencingpediatric dermatology

More Related Videos

Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans10:23

Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans

Published on: September 8, 2023

3.1K
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.7K

Related Concept Videos

Pedigree Analysis01:35

Pedigree Analysis

Overview
85.5K
Clinical Applications of Epidermal Stem Cells01:19

Clinical Applications of Epidermal Stem Cells

Epidermal stem cells (EpiSCs) are mainly located at the basal layer of the epidermis. These cells repair minor injuries of the skin and replace dead skin cells. However, EpiSCs’ cannot heal severe wounds such as major burns or those from diabetes or hereditary disorders. In such cases, culturing the epidermal stem cells from the patient is possible and has yielded successful treatment options, such as laboratory-grown skin grafts. These grafts are synthesized using a patient’s own...
2.8K
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
35.3K
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
25.8K
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
41.2K
Background and Environment Affect Phenotype02:27

Background and Environment Affect Phenotype

Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
6.7K