A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report.

Area of Science:

• Genetics
• Developmental Biology
• Medical Science

Background:

• Hereditary ectodermal dysplasias are inherited disorders affecting ectodermal derivatives.
• Hypohidrotic ectodermal dysplasia (HED) has an X-linked recessive inheritance pattern, often caused by EDA gene variants.
• X-linked hypohidrotic ectodermal dysplasia (XLHED) affects 1 in 5,000-10,000 births.

Observation:

• A patient presented with a novel inherited allelic variant (NM_001399.5:c.337C>T) in the EDA gene, identified in a heterozygous state.
• Family members were screened, revealing other carriers of this pathogenic EDA gene variant.
• The patient underwent in vitro fertilization with preimplantation genetic testing for monogenic diseases (PGT-M).

Findings:

• Identification of a new pathogenic variant in the EDA gene responsible for XLHED.
• Phenotypic characterization of family members carrying the identified EDA gene variant.
• Successful application of PGT-M for family planning in the context of XLHED.

Implications:

• This discovery expands the known spectrum of EDA gene mutations causing XLHED.
• Highlights the importance of genetic counseling and carrier screening for families with HED.
• Demonstrates the utility of PGT-M in preventing the transmission of XLHED.