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Prenatal Genetic Testing for X-Linked Hypohidrotic Ectodermal Dysplasia by Christos Yapijakis; Iphigenia Gintoni; George Chrousos is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Prenatal Genetic Testing for X-Linked Hypohidrotic Ectodermal Dysplasia about?

## Introduction: Hypohidrotic ectodermal dysplasia (hed) is an x-linked recessive disorder, characterised by abnormally developed ectodermal tissues (sweat glands, enamel, hair, nails). hed is caused by mutations of the eda1 gene (xq13.1) which codes for ectodysplasin a, a transmembrane signalling protein, which plays a significant role in ectodermal differentiation. here we present a case of prenatal testing for hed. ## Methods: An 11-month-old boy with no family history was clinically diagnosed with hed. genomic dna was isolated from the patient's white blood cells, and the possible existence of mutations suspected for hed development was investigated by an ngs gene panel. total dna was also isolated from blood samples of his parents. after mutation detection and genetic counselling, a prenatal hed test was performed during the 12th week of the mother's next pregnancy. embryonic dna was isolated from a sample of chorionic villi. parts of the eda1, amelx (x chromosome), and sry (y chromosome) genes were amplified by pcr, using the corresponding primers. ## Results: The boy with hed was found to be a hemizygote for the c.595\_613del (p. pro199phefster75) deletion in the eda1 gene.

Who reads Prenatal Genetic Testing for X-Linked Hypohidrotic Ectodermal Dysplasia?

Author

Christos Yapijakis; Iphigenia Gintoni; George Chrousos

Publisher

Springer International Publishing AG

Published

2022

Language

EN

ISBN

9783030787882

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)