Novel <i>EDA</i> mutations cause X-linked hypohidrotic ectodermal dysplasia: the first study from Venezuela-Reference-Cited by-同舟云学术

Novel EDA mutations cause X-linked hypohidrotic ectodermal dysplasia: the first study from Venezuela

Published:2023-06-28 Issue:12 Volume:48 Page:1409-1413
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:

Author:

Cammarata-Scalisi Francisco¹²,Callea Michele³,Chaudhary Ajay Kumar⁴,Tadich Antonio Cárdenas²,Castillo Maykol Araya⁵,Morabito Antonino⁶⁷⁸,Bellacchio Emanuele⁹,Pisaneschi Elisa¹⁰,Novelli Antonio¹⁰,Willoughby Colin E¹¹^ORCID,Bashyam Murali Dharan⁴^ORCID

Affiliation:

1. Unit of Genetic Medicine, Department of Childcare Pediatrics, University of Los Andes , Mérida , Venezuela

2. Service of Pediatrics, Regional Hospital of Antofagasta , Antofagasta , Chile

3. Meyer Children's Hospital IRCCS, Pediatric Dentistry and Special Dental Care unit , Florence , Italy

4. Laboratory of Molecular Oncology, Centre for DNA Fingerprinting and Diagnostics , Hyderabad , India

5. Clinical Laboratory, Regional of Antofagasta Hospital , Chile

6. Department of Pediatric Surgery, Meyer Children’s Hospital IRCCS , Florence , Italy

7. Department of Neurosciences, Psychology Drug Research and Child Health (NEUROFARBA), University of Florence , Florence , Italy

8. School of Health and Society, University of Salford , Salford , UK

9. Molecular Genetics and Functional Genomics Research Unit

10. Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS , Rome , Italy

11. Genomic Medicine, Biomedical Sciences Research Institute, Ulster University , Coleraine, Northern Ireland

Abstract

We present what, to the best of our knowledge, is the first clinical and molecular genetic analysis of X-linked hypohidrotic ectodermal dysplasia from the Venezuelan population. We analysed two families exhibiting classic clinical symptoms and identified a novel hemizygous EDA deletion (c.111delG) in one and a novel missense likely pathogenic variant (p.Gly192Glu) in the other.

Publisher

Oxford University Press (OUP)

Subject

Dermatology

Link

https://academic.oup.com/ced/advance-article-pdf/doi/10.1093/ced/llad218/51248509/llad218.pdf

Reference7 articles.

1. Molecular basis of hypohidrotic ectodermal dysplasia: an update;Trzeciak;J Appl Genet,2016

2. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia;Monreal;Nat Genet,1999

3. Next generation sequencing panel target genes: possible diagnostic tool for ectodermal dysplasia related diseases;Callea,2023

4. Leveraging rules of nonsense-mediated mRNA decay for genome engineering and personalized medicine;Popp;Cell,2016

5. T-coffee: a web server for the multiple sequence alignment of protein and RNA sequences using structural information and homology extension;Tommaso;Nucleic Acids Res,2011