Next generation sequencing panel target genes: possible diagnostic tool for ectodermal dysplasia related diseases

Ectodermal dysplasias (EDs) are a large and complex group of disorders affecting the ectoderm-derived organs; the clinical and genetic heterogeneity of these conditions renders an accurate diagnosis more challenging. The aim of this study is to demonstrate the clinical utility of a targeted resequen...

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Bibliographic Details
Published in:	Italian journal of dermatology and venereology Vol. 158; no. 1; p. 32
Main Authors:	Callea, Michele, Bellacchio, Emanuele, Cammarata Scalisi, Francisco, El Feghaly, Jinia, El-Ghandour, Rabab K, Avendaño, Andrea, Yavuz, Yasemine, Diociaiuti, Andrea, Digilio, Maria C, DI Stazio, Mariateresa, Novelli, Antonio, Oranges, Teresa, Filippeschi, Cesare, Pisaneschi, Elisa, Jilani, Houweyda, Gigola, Francesca, Willoughby, Colin E, Morabito, Antonino
Format:	Journal Article
Language:	English
Published:	Italy 01-02-2023
Subjects:	Ectodermal Dysplasia - diagnosis Ectodermal Dysplasia - genetics Ectodermal Dysplasia 1, Anhidrotic - diagnosis Ectodermal Dysplasia 1, Anhidrotic - genetics Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive Ectodysplasins - genetics High-Throughput Nucleotide Sequencing Humans Mutation
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Summary:	Ectodermal dysplasias (EDs) are a large and complex group of disorders affecting the ectoderm-derived organs; the clinical and genetic heterogeneity of these conditions renders an accurate diagnosis more challenging. The aim of this study is to demonstrate the clinical utility of a targeted resequencing panel through enhancing the molecular and clinical diagnosis of EDs. Given the recent developments in gene and protein-based therapies for X-linked hypohidrotic ectodermal dysplasia, there is a re-emerging interest in identifying the genetic basis of EDs and the respective phenotypic presentations, in an aim to facilitate potential treatments for affected families. We assessed seventeen individuals, from three unrelated families, who presented with diverse phenotypes suggestive of ED. An extensive multidisciplinary clinical evaluation was performed followed by a targeted exome resequencing panel (including genes that are known to cause EDs). MiSeq data software was used, variants with Qscore >30 were accepted. Three different previously reported hemizygous EDA mutations were found in the families. However, a complete genotype-phenotype correlation could not be established, neither in our patients nor in the previously reported patients. Targeted exome resequencing can provide a rapid and accurate diagnosis of EDs, while further contributing to the existing ED genetic data. Moreover, the identification of the disease-causing mutation in an affected family is crucial for proper genetic counseling and the establishment of a genotype-phenotype correlation which will subsequently provide the affected individuals with a more suitable treatment plan.
ISSN:	2784-8450
DOI:	10.23736/S2784-8671.23.07540-0