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

Autor:	Callea M; Unit of Pediatric Dentistry and Special Dental Care, Meyer Children's Hospital IRCCS, Florence, Italy., Bellacchio E; Research Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Cammarata Scalisi F; Service of Pediatrics, Regional Hospital of Antofagasta, Antofagasta, Chile., El Feghaly J; Department of Pediatric Dermatology, University of Rochester, Rochester, MN, USA., El-Ghandour RK; Department of Pediatric Dentistry, Faculty of Dentistry, Pharos University, Alexandria, Egypt., Avendaño A; Unit of Genetic Medicine, Department of Childcare Pediatrics, University of Los Andes, Mérida, Venezuela., Yavuz Y; Department of Restorative Dentistry, Faculty of Dentistry, Harran University, Sanliurfa, Türkiye., Diociaiuti A; Division of Dermatology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Digilio MC; Division of Genetics and Rare Diseases Research, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., DI Stazio M; University of Trieste, Trieste, Italy., Novelli A; Division of Genetics and Rare Diseases Research, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Oranges T; Meyer Children's Hospital IRCCS, Florence, Italy., Filippeschi C; Meyer Children's Hospital IRCCS, Florence, Italy., Pisaneschi E; Division of Genetics and Rare Diseases Research, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Jilani H; Department of Genetics, Mongi Slim Hospital, Marsa, Tunisia.; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia., Gigola F; Department of Neurofarba, University of Florence, Florence, Italy - francesca.gigola@unifi.it.; Department of Pediatric Surgery, Meyer Children's Hospital IRCCS, Florence, Italy., Willoughby CE; University and Belfast Health and Social Care Trust, Belfast, UK., Morabito A; Department of Neurofarba, University of Florence, Florence, Italy.; Department of Pediatric Surgery, Meyer Children's Hospital IRCCS, Florence, Italy.
Jazyk:	angličtina
Zdroj:	Italian journal of dermatology and venereology [Ital J Dermatol Venerol] 2023 Feb; Vol. 158 (1), pp. 32-38.
DOI:	10.23736/S2784-8671.23.07540-0
Abstrakt:	Background: 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. Methods: 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 TM data software was used, variants with Qscore >30 were accepted. Results: 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. Conclusions: 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.
Databáze:	MEDLINE
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