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Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia
1Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Orthodontics & Craniofacial Research
|July 21, 2011
Summary
This study identifies novel mutations in the EDAR gene in Pakistani families with autosomal recessive Hypohidrotic Ectodermal Dysplasia (HED). These findings highlight the EDAR signaling pathway
Area of Science:
- Genetics
- Developmental Biology
- Human Disease
Background:
- Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder affecting hair, sweat glands, and teeth.
- HED has various inheritance patterns, including autosomal recessive.
- Mutations in EDA, EDAR, EDARADD, and WNT10A genes are known causes of HED.
Purpose of the Study:
- To investigate the genetic basis of autosomal recessive HED in two Pakistani families.
- To identify mutations in the EDAR gene responsible for HED in these families.
Main Methods:
- Microsatellite marker analysis was used for genotyping affected and unaffected individuals.
- Linkage analysis was performed to associate HED with the EDAR gene on chromosome 2q11-q13.
- Direct sequencing of all EDAR exons and splice junctions was conducted to detect mutations.
Main Results:
- Linkage analysis confirmed the association of HED with the EDAR gene in both families.
- A novel missense mutation (c.1163T>C; p.Ile388Thr) was identified in the EDAR gene in family A.
- A novel insertion mutation (c.1014insA; p.V339SfsX6) was identified in the EDAR gene in family B.
Conclusions:
- The study identified two new mutations in the EDAR gene causing autosomal recessive HED.
- These findings reinforce the critical role of the EDAR signaling pathway in ectodermal appendage development.
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